Canonical Allele Identifier: CA386493096
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840504-G-A
MyVariant Identifiers: chr12:g.103234282G>A (hg19) chr12:g.102840504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840504G>A , CM000674.2:g.102840504G>A GRCh38
NC_000012.11:g.103234282G>A , CM000674.1:g.103234282G>A GRCh37
NC_000012.10:g.101758412G>A NCBI36
NG_008690.1:g.82099C>T
NG_008690.2:g.122907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1211C>T MANE Select ENSP00000448059.1:p.Ala404Val
ENST00000307000.7:c.1196C>T ENSP00000303500.2:p.Ala399Val
ENST00000551114.2:n.873C>T
ENST00000553106.5:c.1211C>T ENSP00000448059.1:p.Ala404Val
ENST00000635477.1:c.315C>T
ENST00000635528.1:n.726C>T
NM_000277.1:c.1211C>T NP_000268.1:p.Ala404Val
XM_011538422.1:c.1154C>T XP_011536724.1:p.Ala385Val
NM_000277.2:c.1211C>T NP_000268.1:p.Ala404Val
NM_001354304.1:c.1211C>T NP_001341233.1:p.Ala404Val
NM_000277.3:c.1211C>T MANE Select NP_000268.1:p.Ala404Val
NM_001354304.2:c.1211C>T NP_001341233.1:p.Ala404Val
Search 100 bp 5'
Search 100 bp 3'