Canonical Allele Identifier: CA386295849

Gene: PAH

Linked Data

• dbSNP Id: rs62517178
• gnomAD v4: 12-102852942-C-G
• MyVariant Identifiers: chr12:g.103246720C>G (hg19) ; chr12:g.102852942C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852942C>G , CM000674.2:g.102852942C>G	GRCh38
NC_000012.11:g.103246720C>G , CM000674.1:g.103246720C>G	GRCh37
NC_000012.10:g.101770850C>G	NCBI36
NG_008690.1:g.69661G>C
NG_008690.2:g.110469G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.715G>C MANE Select	ENSP00000448059.1:p.Gly239Arg
ENST00000307000.7:c.700G>C	ENSP00000303500.2:p.Gly234Arg
ENST00000549247.6:n.474G>C
ENST00000553106.5:c.715G>C	ENSP00000448059.1:p.Gly239Arg
NM_000277.1:c.715G>C	NP_000268.1:p.Gly239Arg
XM_011538422.1:c.715G>C	XP_011536724.1:p.Gly239Arg
NM_000277.2:c.715G>C	NP_000268.1:p.Gly239Arg
NM_001354304.1:c.715G>C	NP_001341233.1:p.Gly239Arg
NM_000277.3:c.715G>C MANE Select	NP_000268.1:p.Gly239Arg
NM_001354304.2:c.715G>C	NP_001341233.1:p.Gly239Arg