Canonical Allele Identifier: CA273109
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92747
ClinVar RCV Id: RCV000078527 RCV000150086
dbSNP Id: rs62516109
gnomAD v4: 12-102855204-A-G
MyVariant Identifiers: chr12:g.103248982A>G (hg19) chr12:g.102855204A>G (hg38)
ERepo: CA273109/MONDO:0009861/006
PubMed: PMID:8632937 PMID:8659548 PMID:9012412 PMID:9521426 PMID:16176881 PMID:17924342 PMID:19292873 PMID:22112818 PMID:23430547 PMID:23430918 PMID:23764561
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855204A>G , CM000674.2:g.102855204A>G GRCh38
NC_000012.11:g.103248982A>G , CM000674.1:g.103248982A>G GRCh37
NC_000012.10:g.101773112A>G NCBI36
NG_008690.1:g.67399T>C
NG_008690.2:g.108207T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.638T>C MANE Select ENSP00000448059.1:p.Leu213Pro
ENST00000307000.7:c.623T>C ENSP00000303500.2:p.Leu208Pro
ENST00000549111.5:n.734T>C
ENST00000553106.5:c.638T>C ENSP00000448059.1:p.Leu213Pro
NM_000277.1:c.638T>C NP_000268.1:p.Leu213Pro
XM_011538422.1:c.638T>C XP_011536724.1:p.Leu213Pro
NM_000277.2:c.638T>C NP_000268.1:p.Leu213Pro
NM_001354304.1:c.638T>C NP_001341233.1:p.Leu213Pro
XM_017019370.2:c.638T>C XP_016874859.1:p.Leu213Pro
NM_000277.3:c.638T>C MANE Select NP_000268.1:p.Leu213Pro
NM_001354304.2:c.638T>C NP_001341233.1:p.Leu213Pro
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