Canonical Allele Identifier: CA2059444814

Gene: PAH

Linked Data

• dbSNP Id: rs1875166061
• gnomAD v4: 12-102851813-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851813C>G , CM000674.2:g.102851813C>G	GRCh38
NC_000012.11:g.103245591C>G , CM000674.1:g.103245591C>G	GRCh37
NC_000012.10:g.101769721C>G	NCBI36
NG_008690.1:g.70790G>C
NG_008690.2:g.111598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-57G>C MANE Select	ENSP00000448059.1:n.843-57G>C
ENST00000307000.7:c.828-57G>C	ENSP00000303500.2:n.828-57G>C
ENST00000549247.6:n.602-57G>C
ENST00000551114.2:n.448G>C
ENST00000553106.5:c.843-57G>C	ENSP00000448059.1:n.843-57G>C
ENST00000635477.1:c.4-57G>C
NM_000277.1:c.843-57G>C	NP_000268.1:n.843-57G>C
XM_011538422.1:c.843-57G>C	XP_011536724.1:n.843-57G>C
NM_000277.2:c.843-57G>C	NP_000268.1:n.843-57G>C
NM_001354304.1:c.843-57G>C	NP_001341233.1:n.843-57G>C
NM_000277.3:c.843-57G>C MANE Select	NP_000268.1:n.843-57G>C
NM_001354304.2:c.843-57G>C	NP_001341233.1:n.843-57G>C