Canonical Allele Identifier: CA386303793

Gene: PAH

Linked Data

• dbSNP Id: rs199475662
• gnomAD v4: 12-102917072-T-C
• MyVariant Identifiers: chr12:g.103310850T>C (hg19) ; chr12:g.102917072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917072T>C , CM000674.2:g.102917072T>C	GRCh38
NC_000012.11:g.103310850T>C , CM000674.1:g.103310850T>C	GRCh37
NC_000012.10:g.101834980T>C	NCBI36
NG_008690.1:g.5531A>G
NG_008690.2:g.46339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.59A>G MANE Select	ENSP00000448059.1:p.Gln20Arg
ENST00000307000.7:c.-89A>G	ENSP00000303500.2:n.-89A>G
ENST00000546844.1:c.59A>G	ENSP00000446658.1:p.Gln20Arg
ENST00000547319.1:n.370A>G
ENST00000549111.5:n.155A>G
ENST00000550978.6:c.43A>G
ENST00000551337.5:c.59A>G	ENSP00000447620.1:p.Gln20Arg
ENST00000551988.5:n.148A>G
ENST00000553106.5:c.59A>G	ENSP00000448059.1:p.Gln20Arg
ENST00000635500.1:n.29-4174A>G
NM_000277.1:c.59A>G	NP_000268.1:p.Gln20Arg
XM_011538422.1:c.59A>G	XP_011536724.1:p.Gln20Arg
NM_000277.2:c.59A>G	NP_000268.1:p.Gln20Arg
NM_001354304.1:c.59A>G	NP_001341233.1:p.Gln20Arg
XM_017019370.2:c.59A>G	XP_016874859.1:p.Gln20Arg
NM_000277.3:c.59A>G MANE Select	NP_000268.1:p.Gln20Arg
NM_001354304.2:c.59A>G	NP_001341233.1:p.Gln20Arg