Canonical Allele Identifier: CA386296839
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1513560
ClinVar RCV Id: RCV002018434
dbSNP Id: rs2136649680
gnomAD v4: 12-102855280-C-T
MyVariant Identifiers: chr12:g.103249058C>T (hg19) chr12:g.102855280C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855280C>T , CM000674.2:g.102855280C>T GRCh38
NC_000012.11:g.103249058C>T , CM000674.1:g.103249058C>T GRCh37
NC_000012.10:g.101773188C>T NCBI36
NG_008690.1:g.67323G>A
NG_008690.2:g.108131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.562G>A MANE Select ENSP00000448059.1:p.Gly188Ser
ENST00000307000.7:c.547G>A ENSP00000303500.2:p.Gly183Ser
ENST00000549111.5:n.658G>A
ENST00000551988.5:n.583G>A
ENST00000553106.5:c.562G>A ENSP00000448059.1:p.Gly188Ser
NM_000277.1:c.562G>A NP_000268.1:p.Gly188Ser
XM_011538422.1:c.562G>A XP_011536724.1:p.Gly188Ser
NM_000277.2:c.562G>A NP_000268.1:p.Gly188Ser
NM_001354304.1:c.562G>A NP_001341233.1:p.Gly188Ser
XM_017019370.2:c.562G>A XP_016874859.1:p.Gly188Ser
NM_000277.3:c.562G>A MANE Select NP_000268.1:p.Gly188Ser
NM_001354304.2:c.562G>A NP_001341233.1:p.Gly188Ser
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