Canonical Allele Identifier: CA6748963

Gene: PAH

Linked Data

• dbSNP Id: rs767127989
• ExAC: 12:103271300 C / G
• gnomAD v2: 12-103271300-C-G
• gnomAD v4: 12-102877522-C-G
• MyVariant Identifiers: chr12:g.103271300C>G (hg19) ; chr12:g.102877522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877522C>G , CM000674.2:g.102877522C>G	GRCh38
NC_000012.11:g.103271300C>G , CM000674.1:g.103271300C>G	GRCh37
NC_000012.10:g.101795430C>G	NCBI36
NG_008690.1:g.45081G>C
NG_008690.2:g.85889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.381G>C MANE Select	ENSP00000448059.1:p.Glu127Asp
ENST00000307000.7:c.366G>C	ENSP00000303500.2:p.Glu122Asp
ENST00000549111.5:n.477G>C
ENST00000550978.6:c.365G>C
ENST00000551337.5:c.381G>C	ENSP00000447620.1:p.Glu127Asp
ENST00000551988.5:n.470G>C
ENST00000553106.5:c.381G>C	ENSP00000448059.1:p.Glu127Asp
NM_000277.1:c.381G>C	NP_000268.1:p.Glu127Asp
XM_011538422.1:c.381G>C	XP_011536724.1:p.Glu127Asp
NM_000277.2:c.381G>C	NP_000268.1:p.Glu127Asp
NM_001354304.1:c.381G>C	NP_001341233.1:p.Glu127Asp
XM_017019370.2:c.381G>C	XP_016874859.1:p.Glu127Asp
NM_000277.3:c.381G>C MANE Select	NP_000268.1:p.Glu127Asp
NM_001354304.2:c.381G>C	NP_001341233.1:p.Glu127Asp