Canonical Allele Identifier: CA229374
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102548
ClinVar RCV Id: RCV000088782 RCV002509213
dbSNP Id: rs62508736
MyVariant Identifiers: chr12:g.103237439G>T (hg19) chr12:g.102843661G>T (hg38)
ERepo: CA229374/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843661G>T , CM000674.2:g.102843661G>T GRCh38
NC_000012.11:g.103237439G>T , CM000674.1:g.103237439G>T GRCh37
NC_000012.10:g.101761569G>T NCBI36
NG_008690.1:g.78942C>A
NG_008690.2:g.119750C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1184C>A MANE Select ENSP00000448059.1:p.Ala395Asp
ENST00000307000.7:c.1169C>A ENSP00000303500.2:p.Ala390Asp
ENST00000549247.6:n.943C>A
ENST00000551114.2:n.846C>A
ENST00000553106.5:c.1184C>A ENSP00000448059.1:p.Ala395Asp
ENST00000635477.1:c.288C>A
ENST00000635528.1:n.699C>A
NM_000277.1:c.1184C>A NP_000268.1:p.Ala395Asp
XM_011538422.1:c.1127C>A XP_011536724.1:p.Ala376Asp
NM_000277.2:c.1184C>A NP_000268.1:p.Ala395Asp
NM_001354304.1:c.1184C>A NP_001341233.1:p.Ala395Asp
NM_000277.3:c.1184C>A MANE Select NP_000268.1:p.Ala395Asp
NM_001354304.2:c.1184C>A NP_001341233.1:p.Ala395Asp
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