Canonical Allele Identifier: CA229276

Gene: PAH

Linked Data

• ClinVar Variation Id: 102473
• ClinVar RCV Id: RCV000088704 ; RCV001386152
• dbSNP Id: rs62507282
• MyVariant Identifiers: chr12:g.103238155C>T (hg19) ; chr12:g.102844377C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1024G>A MANE Select	ENSP00000448059.1:p.Ala342Thr
ENST00000307000.7:c.1009G>A	ENSP00000303500.2:p.Ala337Thr
ENST00000549247.6:n.783G>A
ENST00000551114.2:n.686G>A
ENST00000553106.5:c.1024G>A	ENSP00000448059.1:p.Ala342Thr
ENST00000635477.1:c.128G>A
ENST00000635528.1:n.539G>A
NM_000277.1:c.1024G>A	NP_000268.1:p.Ala342Thr
XM_011538422.1:c.967G>A	XP_011536724.1:p.Ala323Thr
NM_000277.2:c.1024G>A	NP_000268.1:p.Ala342Thr
NM_001354304.1:c.1024G>A	NP_001341233.1:p.Ala342Thr
NM_000277.3:c.1024G>A MANE Select	NP_000268.1:p.Ala342Thr
NM_001354304.2:c.1024G>A	NP_001341233.1:p.Ala342Thr