Canonical Allele Identifier: CA229280
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102476
ClinVar RCV Id: RCV000088707 RCV001200017
dbSNP Id: rs62508651
MyVariant Identifiers: chr12:g.103238152A>C (hg19) chr12:g.102844374A>C (hg38)
ERepo: CA229280/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844374A>C , CM000674.2:g.102844374A>C GRCh38
NC_000012.11:g.103238152A>C , CM000674.1:g.103238152A>C GRCh37
NC_000012.10:g.101762282A>C NCBI36
NG_008690.1:g.78229T>G
NG_008690.2:g.119037T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1027T>G MANE Select ENSP00000448059.1:p.Tyr343Asp
ENST00000307000.7:c.1012T>G ENSP00000303500.2:p.Tyr338Asp
ENST00000549247.6:n.786T>G
ENST00000551114.2:n.689T>G
ENST00000553106.5:c.1027T>G ENSP00000448059.1:p.Tyr343Asp
ENST00000635477.1:c.131T>G
ENST00000635528.1:n.542T>G
NM_000277.1:c.1027T>G NP_000268.1:p.Tyr343Asp
XM_011538422.1:c.970T>G XP_011536724.1:p.Tyr324Asp
NM_000277.2:c.1027T>G NP_000268.1:p.Tyr343Asp
NM_001354304.1:c.1027T>G NP_001341233.1:p.Tyr343Asp
NM_000277.3:c.1027T>G MANE Select NP_000268.1:p.Tyr343Asp
NM_001354304.2:c.1027T>G NP_001341233.1:p.Tyr343Asp
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