Canonical Allele Identifier: CA386493498

Gene: PAH

Linked Data

• dbSNP Id: rs1356332985
• gnomAD v2: 12-103238191-C-T
• gnomAD v4: 12-102844413-C-T
• COSMIC: COSM4563750
• MyVariant Identifiers: chr12:g.103238191C>T (hg19) ; chr12:g.102844413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844413C>T , CM000674.2:g.102844413C>T	GRCh38
NC_000012.11:g.103238191C>T , CM000674.1:g.103238191C>T	GRCh37
NC_000012.10:g.101762321C>T	NCBI36
NG_008690.1:g.78190G>A
NG_008690.2:g.118998G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.988G>A MANE Select	ENSP00000448059.1:p.Glu330Lys
ENST00000307000.7:c.973G>A	ENSP00000303500.2:p.Glu325Lys
ENST00000549247.6:n.747G>A
ENST00000551114.2:n.650G>A
ENST00000553106.5:c.988G>A	ENSP00000448059.1:p.Glu330Lys
ENST00000635477.1:c.92G>A
ENST00000635528.1:n.503G>A
NM_000277.1:c.988G>A	NP_000268.1:p.Glu330Lys
XM_011538422.1:c.931G>A	XP_011536724.1:p.Glu311Lys
NM_000277.2:c.988G>A	NP_000268.1:p.Glu330Lys
NM_001354304.1:c.988G>A	NP_001341233.1:p.Glu330Lys
NM_000277.3:c.988G>A MANE Select	NP_000268.1:p.Glu330Lys
NM_001354304.2:c.988G>A	NP_001341233.1:p.Glu330Lys