Canonical Allele Identifier: CA386303843

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103310874C>T (hg19) ; chr12:g.102917096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917096C>T , CM000674.2:g.102917096C>T	GRCh38
NC_000012.11:g.103310874C>T , CM000674.1:g.103310874C>T	GRCh37
NC_000012.10:g.101835004C>T	NCBI36
NG_008690.1:g.5507G>A
NG_008690.2:g.46315G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.35G>A MANE Select	ENSP00000448059.1:p.Gly12Asp
ENST00000307000.7:c.-113G>A	ENSP00000303500.2:n.-113G>A
ENST00000546844.1:c.35G>A	ENSP00000446658.1:p.Gly12Asp
ENST00000547319.1:n.346G>A
ENST00000549111.5:n.131G>A
ENST00000550978.6:c.19G>A
ENST00000551337.5:c.35G>A	ENSP00000447620.1:p.Gly12Asp
ENST00000551988.5:n.124G>A
ENST00000553106.5:c.35G>A	ENSP00000448059.1:p.Gly12Asp
ENST00000635500.1:n.29-4198G>A
NM_000277.1:c.35G>A	NP_000268.1:p.Gly12Asp
XM_011538422.1:c.35G>A	XP_011536724.1:p.Gly12Asp
NM_000277.2:c.35G>A	NP_000268.1:p.Gly12Asp
NM_001354304.1:c.35G>A	NP_001341233.1:p.Gly12Asp
XM_017019370.2:c.35G>A	XP_016874859.1:p.Gly12Asp
NM_000277.3:c.35G>A MANE Select	NP_000268.1:p.Gly12Asp
NM_001354304.2:c.35G>A	NP_001341233.1:p.Gly12Asp