Canonical Allele Identifier: CA386303857

Gene: PAH

Linked Data

• COSMIC: COSM6135540
• MyVariant Identifiers: chr12:g.103310881C>A (hg19) ; chr12:g.102917103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917103C>A , CM000674.2:g.102917103C>A	GRCh38
NC_000012.11:g.103310881C>A , CM000674.1:g.103310881C>A	GRCh37
NC_000012.10:g.101835011C>A	NCBI36
NG_008690.1:g.5500G>T
NG_008690.2:g.46308G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.28G>T MANE Select	ENSP00000448059.1:p.Gly10Cys
ENST00000307000.7:c.-120G>T	ENSP00000303500.2:n.-120G>T
ENST00000546844.1:c.28G>T	ENSP00000446658.1:p.Gly10Cys
ENST00000547319.1:n.339G>T
ENST00000549111.5:n.124G>T
ENST00000550978.6:c.12G>T
ENST00000551337.5:c.28G>T	ENSP00000447620.1:p.Gly10Cys
ENST00000551988.5:n.117G>T
ENST00000553106.5:c.28G>T	ENSP00000448059.1:p.Gly10Cys
ENST00000635500.1:n.29-4205G>T
NM_000277.1:c.28G>T	NP_000268.1:p.Gly10Cys
XM_011538422.1:c.28G>T	XP_011536724.1:p.Gly10Cys
NM_000277.2:c.28G>T	NP_000268.1:p.Gly10Cys
NM_001354304.1:c.28G>T	NP_001341233.1:p.Gly10Cys
XM_017019370.2:c.28G>T	XP_016874859.1:p.Gly10Cys
NM_000277.3:c.28G>T MANE Select	NP_000268.1:p.Gly10Cys
NM_001354304.2:c.28G>T	NP_001341233.1:p.Gly10Cys