Canonical Allele Identifier: CA229277

Gene: PAH

Linked Data

• ClinVar Variation Id: 102474
• ClinVar RCV Id: RCV000088705 ; RCV003330433
• dbSNP Id: rs62507282
• MyVariant Identifiers: chr12:g.103238155C>G (hg19) ; chr12:g.102844377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844377C>G , CM000674.2:g.102844377C>G	GRCh38
NC_000012.11:g.103238155C>G , CM000674.1:g.103238155C>G	GRCh37
NC_000012.10:g.101762285C>G	NCBI36
NG_008690.1:g.78226G>C
NG_008690.2:g.119034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1024G>C MANE Select	ENSP00000448059.1:p.Ala342Pro
ENST00000307000.7:c.1009G>C	ENSP00000303500.2:p.Ala337Pro
ENST00000549247.6:n.783G>C
ENST00000551114.2:n.686G>C
ENST00000553106.5:c.1024G>C	ENSP00000448059.1:p.Ala342Pro
ENST00000635477.1:c.128G>C
ENST00000635528.1:n.539G>C
NM_000277.1:c.1024G>C	NP_000268.1:p.Ala342Pro
XM_011538422.1:c.967G>C	XP_011536724.1:p.Ala323Pro
NM_000277.2:c.1024G>C	NP_000268.1:p.Ala342Pro
NM_001354304.1:c.1024G>C	NP_001341233.1:p.Ala342Pro
NM_000277.3:c.1024G>C MANE Select	NP_000268.1:p.Ala342Pro
NM_001354304.2:c.1024G>C	NP_001341233.1:p.Ala342Pro