Canonical Allele Identifier: CA2059445942

Gene: PAH

Linked Data

• dbSNP Id: rs1592947155

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843397T>G , CM000674.2:g.102843397T>G	GRCh38
NC_000012.11:g.103237175T>G , CM000674.1:g.103237175T>G	GRCh37
NC_000012.10:g.101761305T>G	NCBI36
NG_008690.1:g.79206A>C
NG_008690.2:g.120014A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1199+249A>C MANE Select	ENSP00000448059.1:n.1199+249A>C
ENST00000307000.7:c.1184+249A>C	ENSP00000303500.2:n.1184+249A>C
ENST00000549247.6:n.958+249A>C
ENST00000551114.2:n.861+249A>C
ENST00000553106.5:c.1199+249A>C	ENSP00000448059.1:n.1199+249A>C
ENST00000635477.1:c.303+249A>C
ENST00000635528.1:n.714+249A>C
NM_000277.1:c.1199+249A>C	NP_000268.1:n.1199+249A>C
XM_011538422.1:c.1142+249A>C	XP_011536724.1:n.1142+249A>C
NM_000277.2:c.1199+249A>C	NP_000268.1:n.1199+249A>C
NM_001354304.1:c.1199+249A>C	NP_001341233.1:n.1199+249A>C
NM_000277.3:c.1199+249A>C MANE Select	NP_000268.1:n.1199+249A>C
NM_001354304.2:c.1199+249A>C	NP_001341233.1:n.1199+249A>C