Canonical Allele Identifier: CA229381

Gene: PAH

Linked Data

• ClinVar Variation Id: 102553
• ClinVar RCV Id: RCV000088787 ; RCV000671619 ; RCV003479000
• dbSNP Id: rs199475593
• ExAC: 12:103237425 T / G
• gnomAD v2: 12-103237425-T-G
• gnomAD v3: 12-102843647-T-G
• gnomAD v4: 12-102843647-T-G
• MyVariant Identifiers: chr12:g.103237425T>G (hg19) ; chr12:g.102843647T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843647T>G , CM000674.2:g.102843647T>G	GRCh38
NC_000012.11:g.103237425T>G , CM000674.1:g.103237425T>G	GRCh37
NC_000012.10:g.101761555T>G	NCBI36
NG_008690.1:g.78956A>C
NG_008690.2:g.119764A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1198A>C MANE Select	ENSP00000448059.1:p.Arg400=
ENST00000307000.7:c.1183A>C	ENSP00000303500.2:p.Arg395=
ENST00000549247.6:n.957A>C
ENST00000551114.2:n.860A>C
ENST00000553106.5:c.1198A>C	ENSP00000448059.1:p.Arg400=
ENST00000635477.1:c.302A>C
ENST00000635528.1:n.713A>C
NM_000277.1:c.1198A>C	NP_000268.1:p.Arg400=
XM_011538422.1:c.1141A>C	XP_011536724.1:p.Arg381=
NM_000277.2:c.1198A>C	NP_000268.1:p.Arg400=
NM_001354304.1:c.1198A>C	NP_001341233.1:p.Arg400=
NM_000277.3:c.1198A>C MANE Select	NP_000268.1:p.Arg400=
NM_001354304.2:c.1198A>C	NP_001341233.1:p.Arg400=