Canonical Allele Identifier: CA2620506430

Gene: PAH

Linked Data

• gnomAD v4: 12-102843513-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843513T>G , CM000674.2:g.102843513T>G	GRCh38
NC_000012.11:g.103237291T>G , CM000674.1:g.103237291T>G	GRCh37
NC_000012.10:g.101761421T>G	NCBI36
NG_008690.1:g.79090A>C
NG_008690.2:g.119898A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1199+133A>C MANE Select	ENSP00000448059.1:n.1199+133A>C
ENST00000307000.7:c.1184+133A>C	ENSP00000303500.2:n.1184+133A>C
ENST00000549247.6:n.958+133A>C
ENST00000551114.2:n.861+133A>C
ENST00000553106.5:c.1199+133A>C	ENSP00000448059.1:n.1199+133A>C
ENST00000635477.1:c.303+133A>C
ENST00000635528.1:n.714+133A>C
NM_000277.1:c.1199+133A>C	NP_000268.1:n.1199+133A>C
XM_011538422.1:c.1142+133A>C	XP_011536724.1:n.1142+133A>C
NM_000277.2:c.1199+133A>C	NP_000268.1:n.1199+133A>C
NM_001354304.1:c.1199+133A>C	NP_001341233.1:n.1199+133A>C
NM_000277.3:c.1199+133A>C MANE Select	NP_000268.1:n.1199+133A>C
NM_001354304.2:c.1199+133A>C	NP_001341233.1:n.1199+133A>C