Canonical Allele Identifier: CA386303878

Gene: PAH

Linked Data

• COSMIC: COSM1219128
• MyVariant Identifiers: chr12:g.103310890C>A (hg19) ; chr12:g.102917112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917112C>A , CM000674.2:g.102917112C>A	GRCh38
NC_000012.11:g.103310890C>A , CM000674.1:g.103310890C>A	GRCh37
NC_000012.10:g.101835020C>A	NCBI36
NG_008690.1:g.5491G>T
NG_008690.2:g.46299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.19G>T MANE Select	ENSP00000448059.1:p.Glu7Ter
ENST00000307000.7:c.-129G>T	ENSP00000303500.2:n.-129G>T
ENST00000546844.1:c.19G>T	ENSP00000446658.1:p.Glu7Ter
ENST00000547319.1:n.330G>T
ENST00000549111.5:n.115G>T
ENST00000550978.6:c.3G>T
ENST00000551337.5:c.19G>T	ENSP00000447620.1:p.Glu7Ter
ENST00000551988.5:n.108G>T
ENST00000553106.5:c.19G>T	ENSP00000448059.1:p.Glu7Ter
ENST00000635500.1:n.29-4214G>T
NM_000277.1:c.19G>T	NP_000268.1:p.Glu7Ter
XM_011538422.1:c.19G>T	XP_011536724.1:p.Glu7Ter
NM_000277.2:c.19G>T	NP_000268.1:p.Glu7Ter
NM_001354304.1:c.19G>T	NP_001341233.1:p.Glu7Ter
XM_017019370.2:c.19G>T	XP_016874859.1:p.Glu7Ter
NM_000277.3:c.19G>T MANE Select	NP_000268.1:p.Glu7Ter
NM_001354304.2:c.19G>T	NP_001341233.1:p.Glu7Ter