Canonical Allele Identifier: CA274088

Gene: PAH

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843645C>G , CM000674.2:g.102843645C>G	GRCh38
NC_000012.11:g.103237423C>G , CM000674.1:g.103237423C>G	GRCh37
NC_000012.10:g.101761553C>G	NCBI36
NG_008690.1:g.78958G>C
NG_008690.2:g.119766G>C

Transcript Alleles

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