Canonical Allele Identifier: CA386302739

Gene: PAH

Linked Data

• dbSNP Id: rs1878258606
• gnomAD v4: 12-102912883-C-T
• MyVariant Identifiers: chr12:g.103306661C>T (hg19) ; chr12:g.102912883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912883C>T , CM000674.2:g.102912883C>T	GRCh38
NC_000012.11:g.103306661C>T , CM000674.1:g.103306661C>T	GRCh37
NC_000012.10:g.101830791C>T	NCBI36
NG_008690.1:g.9720G>A
NG_008690.2:g.50528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.76G>A MANE Select	ENSP00000448059.1:p.Glu26Lys
ENST00000307000.7:c.61G>A	ENSP00000303500.2:p.Glu21Lys
ENST00000546844.1:c.76G>A	ENSP00000446658.1:p.Glu26Lys
ENST00000548677.2:n.163G>A
ENST00000549111.5:n.172G>A
ENST00000550978.6:c.60G>A
ENST00000551337.5:c.76G>A	ENSP00000447620.1:p.Glu26Lys
ENST00000551988.5:n.165G>A
ENST00000553106.5:c.76G>A	ENSP00000448059.1:p.Glu26Lys
ENST00000635500.1:n.44G>A
NM_000277.1:c.76G>A	NP_000268.1:p.Glu26Lys
XM_011538422.1:c.76G>A	XP_011536724.1:p.Glu26Lys
NM_000277.2:c.76G>A	NP_000268.1:p.Glu26Lys
NM_001354304.1:c.76G>A	NP_001341233.1:p.Glu26Lys
XM_017019370.2:c.76G>A	XP_016874859.1:p.Glu26Lys
NM_000277.3:c.76G>A MANE Select	NP_000268.1:p.Glu26Lys
NM_001354304.2:c.76G>A	NP_001341233.1:p.Glu26Lys