Canonical Allele Identifier: CA386303799

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103310854C>T (hg19) ; chr12:g.102917076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917076C>T , CM000674.2:g.102917076C>T	GRCh38
NC_000012.11:g.103310854C>T , CM000674.1:g.103310854C>T	GRCh37
NC_000012.10:g.101834984C>T	NCBI36
NG_008690.1:g.5527G>A
NG_008690.2:g.46335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.55G>A MANE Select	ENSP00000448059.1:p.Gly19Arg
ENST00000307000.7:c.-93G>A	ENSP00000303500.2:n.-93G>A
ENST00000546844.1:c.55G>A	ENSP00000446658.1:p.Gly19Arg
ENST00000547319.1:n.366G>A
ENST00000549111.5:n.151G>A
ENST00000550978.6:c.39G>A
ENST00000551337.5:c.55G>A	ENSP00000447620.1:p.Gly19Arg
ENST00000551988.5:n.144G>A
ENST00000553106.5:c.55G>A	ENSP00000448059.1:p.Gly19Arg
ENST00000635500.1:n.29-4178G>A
NM_000277.1:c.55G>A	NP_000268.1:p.Gly19Arg
XM_011538422.1:c.55G>A	XP_011536724.1:p.Gly19Arg
NM_000277.2:c.55G>A	NP_000268.1:p.Gly19Arg
NM_001354304.1:c.55G>A	NP_001341233.1:p.Gly19Arg
XM_017019370.2:c.55G>A	XP_016874859.1:p.Gly19Arg
NM_000277.3:c.55G>A MANE Select	NP_000268.1:p.Gly19Arg
NM_001354304.2:c.55G>A	NP_001341233.1:p.Gly19Arg