Canonical Allele Identifier: CA2059446194

Gene: PAH

Linked Data

• dbSNP Id: rs1391511619

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843609C>T , CM000674.2:g.102843609C>T	GRCh38
NC_000012.11:g.103237387C>T , CM000674.1:g.103237387C>T	GRCh37
NC_000012.10:g.101761517C>T	NCBI36
NG_008690.1:g.78994G>A
NG_008690.2:g.119802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1199+37G>A MANE Select	ENSP00000448059.1:n.1199+37G>A
ENST00000307000.7:c.1184+37G>A	ENSP00000303500.2:n.1184+37G>A
ENST00000549247.6:n.958+37G>A
ENST00000551114.2:n.861+37G>A
ENST00000553106.5:c.1199+37G>A	ENSP00000448059.1:n.1199+37G>A
ENST00000635477.1:c.303+37G>A
ENST00000635528.1:n.714+37G>A
NM_000277.1:c.1199+37G>A	NP_000268.1:n.1199+37G>A
XM_011538422.1:c.1142+37G>A	XP_011536724.1:n.1142+37G>A
NM_000277.2:c.1199+37G>A	NP_000268.1:n.1199+37G>A
NM_001354304.1:c.1199+37G>A	NP_001341233.1:n.1199+37G>A
NM_000277.3:c.1199+37G>A MANE Select	NP_000268.1:n.1199+37G>A
NM_001354304.2:c.1199+37G>A	NP_001341233.1:n.1199+37G>A