Canonical Allele Identifier: CA386303879

Gene: PAH

Linked Data

• gnomAD v4: 12-102917112-C-T
• MyVariant Identifiers: chr12:g.103310890C>T (hg19) ; chr12:g.102917112C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.19G>A MANE Select	ENSP00000448059.1:p.Glu7Lys
ENST00000307000.7:c.-129G>A	ENSP00000303500.2:n.-129G>A
ENST00000546844.1:c.19G>A	ENSP00000446658.1:p.Glu7Lys
ENST00000547319.1:n.330G>A
ENST00000549111.5:n.115G>A
ENST00000550978.6:c.3G>A
ENST00000551337.5:c.19G>A	ENSP00000447620.1:p.Glu7Lys
ENST00000551988.5:n.108G>A
ENST00000553106.5:c.19G>A	ENSP00000448059.1:p.Glu7Lys
ENST00000635500.1:n.29-4214G>A
NM_000277.1:c.19G>A	NP_000268.1:p.Glu7Lys
XM_011538422.1:c.19G>A	XP_011536724.1:p.Glu7Lys
NM_000277.2:c.19G>A	NP_000268.1:p.Glu7Lys
NM_001354304.1:c.19G>A	NP_001341233.1:p.Glu7Lys
XM_017019370.2:c.19G>A	XP_016874859.1:p.Glu7Lys
NM_000277.3:c.19G>A MANE Select	NP_000268.1:p.Glu7Lys
NM_001354304.2:c.19G>A	NP_001341233.1:p.Glu7Lys