Canonical Allele Identifier: CA6748771

Gene: PAH

Linked Data

• dbSNP Id: rs748816402
• ExAC: 12:103238193 A / G
• gnomAD v2: 12-103238193-A-G
• MyVariant Identifiers: chr12:g.103238193A>G (hg19) ; chr12:g.102844415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844415A>G , CM000674.2:g.102844415A>G	GRCh38
NC_000012.11:g.103238193A>G , CM000674.1:g.103238193A>G	GRCh37
NC_000012.10:g.101762323A>G	NCBI36
NG_008690.1:g.78188T>C
NG_008690.2:g.118996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.986T>C MANE Select	ENSP00000448059.1:p.Val329Ala
ENST00000307000.7:c.971T>C	ENSP00000303500.2:p.Val324Ala
ENST00000549247.6:n.745T>C
ENST00000551114.2:n.648T>C
ENST00000553106.5:c.986T>C	ENSP00000448059.1:p.Val329Ala
ENST00000635477.1:c.90T>C
ENST00000635528.1:n.501T>C
NM_000277.1:c.986T>C	NP_000268.1:p.Val329Ala
XM_011538422.1:c.929T>C	XP_011536724.1:p.Val310Ala
NM_000277.2:c.986T>C	NP_000268.1:p.Val329Ala
NM_001354304.1:c.986T>C	NP_001341233.1:p.Val329Ala
NM_000277.3:c.986T>C MANE Select	NP_000268.1:p.Val329Ala
NM_001354304.2:c.986T>C	NP_001341233.1:p.Val329Ala