Canonical Allele Identifier: CA267634

Gene: PAH

Linked Data

• ClinVar Variation Id: 120263
• ClinVar RCV Id: RCV000106344 ; RCV002287368
• dbSNP Id: rs281865436
• MyVariant Identifiers: chr12:g.103237427A>G (hg19) ; chr12:g.102843649A>G (hg38)
• ERepo: CA267634/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843649A>G , CM000674.2:g.102843649A>G	GRCh38
NC_000012.11:g.103237427A>G , CM000674.1:g.103237427A>G	GRCh37
NC_000012.10:g.101761557A>G	NCBI36
NG_008690.1:g.78954T>C
NG_008690.2:g.119762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1196T>C MANE Select	ENSP00000448059.1:p.Val399Ala
ENST00000307000.7:c.1181T>C	ENSP00000303500.2:p.Val394Ala
ENST00000549247.6:n.955T>C
ENST00000551114.2:n.858T>C
ENST00000553106.5:c.1196T>C	ENSP00000448059.1:p.Val399Ala
ENST00000635477.1:c.300T>C
ENST00000635528.1:n.711T>C
NM_000277.1:c.1196T>C	NP_000268.1:p.Val399Ala
XM_011538422.1:c.1139T>C	XP_011536724.1:p.Val380Ala
NM_000277.2:c.1196T>C	NP_000268.1:p.Val399Ala
NM_001354304.1:c.1196T>C	NP_001341233.1:p.Val399Ala
NM_000277.3:c.1196T>C MANE Select	NP_000268.1:p.Val399Ala
NM_001354304.2:c.1196T>C	NP_001341233.1:p.Val399Ala