Canonical Allele Identifier: CA655150877

Gene: PAH

Linked Data

• COSMIC: COSN8692056

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844608A>G , CM000674.2:g.102844608A>G	GRCh38
NC_000012.11:g.103238386A>G , CM000674.1:g.103238386A>G	GRCh37
NC_000012.10:g.101762516A>G	NCBI36
NG_008690.1:g.77995T>C
NG_008690.2:g.118803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-177T>C MANE Select	ENSP00000448059.1:n.970-177T>C
ENST00000307000.7:c.955-177T>C	ENSP00000303500.2:n.955-177T>C
ENST00000549247.6:n.729-177T>C
ENST00000551114.2:n.632-177T>C
ENST00000553106.5:c.970-177T>C	ENSP00000448059.1:n.970-177T>C
ENST00000635477.1:c.74-177T>C
ENST00000635528.1:n.485-177T>C
NM_000277.1:c.970-177T>C	NP_000268.1:n.970-177T>C
XM_011538422.1:c.913-177T>C	XP_011536724.1:n.913-177T>C
NM_000277.2:c.970-177T>C	NP_000268.1:n.970-177T>C
NM_001354304.1:c.970-177T>C	NP_001341233.1:n.970-177T>C
NM_000277.3:c.970-177T>C MANE Select	NP_000268.1:n.970-177T>C
NM_001354304.2:c.970-177T>C	NP_001341233.1:n.970-177T>C