Canonical Allele Identifier: CA273110
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92746
ClinVar RCV Id: RCV000078526 RCV000150087 RCV004019528
dbSNP Id: rs77958223
ExAC: 12:103249087 T / C
gnomAD v2: 12-103249087-T-C
gnomAD v3: 12-102855309-T-C
gnomAD v4: 12-102855309-T-C
MyVariant Identifiers: chr12:g.103249087T>C (hg19) chr12:g.102855309T>C (hg38)
PubMed: PMID:8632937 PMID:8659548 PMID:9012412 PMID:10234516 PMID:10479481 PMID:10693064 PMID:11385716 PMID:14726806 PMID:15557004 PMID:16198137 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18299955 PMID:19948162 PMID:21147011 PMID:21871829 PMID:22330942 PMID:22513348 PMID:23357515 PMID:23842451 PMID:23891399 PMID:24350308
ERepo: CA273110/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855309T>C , CM000674.2:g.102855309T>C GRCh38
NC_000012.11:g.103249087T>C , CM000674.1:g.103249087T>C GRCh37
NC_000012.10:g.101773217T>C NCBI36
NG_008690.1:g.67294A>G
NG_008690.2:g.108102A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.533A>G MANE Select ENSP00000448059.1:p.Glu178Gly
ENST00000307000.7:c.518A>G ENSP00000303500.2:p.Glu173Gly
ENST00000549111.5:n.629A>G
ENST00000551988.5:n.554A>G
ENST00000553106.5:c.533A>G ENSP00000448059.1:p.Glu178Gly
NM_000277.1:c.533A>G NP_000268.1:p.Glu178Gly
XM_011538422.1:c.533A>G XP_011536724.1:p.Glu178Gly
NM_000277.2:c.533A>G NP_000268.1:p.Glu178Gly
NM_001354304.1:c.533A>G NP_001341233.1:p.Glu178Gly
XM_017019370.2:c.533A>G XP_016874859.1:p.Glu178Gly
NM_000277.3:c.533A>G MANE Select NP_000268.1:p.Glu178Gly
NM_001354304.2:c.533A>G NP_001341233.1:p.Glu178Gly
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