Canonical Allele Identifier: CA2059443837

Gene: PAH

Linked Data

• dbSNP Id: rs1875137779

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851294A>G , CM000674.2:g.102851294A>G	GRCh38
NC_000012.11:g.103245072A>G , CM000674.1:g.103245072A>G	GRCh37
NC_000012.10:g.101769202A>G	NCBI36
NG_008690.1:g.71309T>C
NG_008690.2:g.112117T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+393T>C MANE Select	ENSP00000448059.1:n.912+393T>C
ENST00000307000.7:c.897+393T>C	ENSP00000303500.2:n.897+393T>C
ENST00000549247.6:n.671+393T>C
ENST00000551114.2:n.574+393T>C
ENST00000553106.5:c.912+393T>C	ENSP00000448059.1:n.912+393T>C
ENST00000635477.1:c.73+393T>C
NM_000277.1:c.912+393T>C	NP_000268.1:n.912+393T>C
XM_011538422.1:c.912+393T>C	XP_011536724.1:n.912+393T>C
NM_000277.2:c.912+393T>C	NP_000268.1:n.912+393T>C
NM_001354304.1:c.912+393T>C	NP_001341233.1:n.912+393T>C
NM_000277.3:c.912+393T>C MANE Select	NP_000268.1:n.912+393T>C
NM_001354304.2:c.912+393T>C	NP_001341233.1:n.912+393T>C