Canonical Allele Identifier: CA481334057

Gene: PAH

Linked Data

• COSMIC: COSM1639012
• MyVariant Identifiers: chr12:g.103310878A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917100A>G , CM000674.2:g.102917100A>G	GRCh38
NC_000012.11:g.103310878A>G , CM000674.1:g.103310878A>G	GRCh37
NC_000012.10:g.101835008A>G	NCBI36
NG_008690.1:g.5503T>C
NG_008690.2:g.46311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.31T>C MANE Select	ENSP00000448059.1:p.Leu11=
ENST00000307000.7:c.-117T>C	ENSP00000303500.2:n.-117T>C
ENST00000546844.1:c.31T>C	ENSP00000446658.1:p.Leu11=
ENST00000547319.1:n.342T>C
ENST00000549111.5:n.127T>C
ENST00000550978.6:c.15T>C
ENST00000551337.5:c.31T>C	ENSP00000447620.1:p.Leu11=
ENST00000551988.5:n.120T>C
ENST00000553106.5:c.31T>C	ENSP00000448059.1:p.Leu11=
ENST00000635500.1:n.29-4202T>C
NM_000277.1:c.31T>C	NP_000268.1:p.Leu11=
XM_011538422.1:c.31T>C	XP_011536724.1:p.Leu11=
NM_000277.2:c.31T>C	NP_000268.1:p.Leu11=
NM_001354304.1:c.31T>C	NP_001341233.1:p.Leu11=
XM_017019370.2:c.31T>C	XP_016874859.1:p.Leu11=
NM_000277.3:c.31T>C MANE Select	NP_000268.1:p.Leu11=
NM_001354304.2:c.31T>C	NP_001341233.1:p.Leu11=