Canonical Allele Identifier: CA2059462353

Gene: PAH

Linked Data

• dbSNP Id: rs1876608104
• gnomAD v4: 12-102877289-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877289T>C , CM000674.2:g.102877289T>C	GRCh38
NC_000012.11:g.103271067T>C , CM000674.1:g.103271067T>C	GRCh37
NC_000012.10:g.101795197T>C	NCBI36
NG_008690.1:g.45314A>G
NG_008690.2:g.86122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.441+173A>G MANE Select	ENSP00000448059.1:n.441+173A>G
ENST00000307000.7:c.426+173A>G	ENSP00000303500.2:n.426+173A>G
ENST00000549111.5:n.537+173A>G
ENST00000550978.6:c.598A>G
ENST00000551988.5:n.530+173A>G
ENST00000553106.5:c.441+173A>G	ENSP00000448059.1:n.441+173A>G
NM_000277.1:c.441+173A>G	NP_000268.1:n.441+173A>G
XM_011538422.1:c.441+173A>G	XP_011536724.1:n.441+173A>G
NM_000277.2:c.441+173A>G	NP_000268.1:n.441+173A>G
NM_001354304.1:c.441+173A>G	NP_001341233.1:n.441+173A>G
XM_017019370.2:c.441+173A>G	XP_016874859.1:n.441+173A>G
NM_000277.3:c.441+173A>G MANE Select	NP_000268.1:n.441+173A>G
NM_001354304.2:c.441+173A>G	NP_001341233.1:n.441+173A>G