Canonical Allele Identifier: CA2620512134

Gene: PAH

Linked Data

• gnomAD v4: 12-102851828-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851828T>C , CM000674.2:g.102851828T>C	GRCh38
NC_000012.11:g.103245606T>C , CM000674.1:g.103245606T>C	GRCh37
NC_000012.10:g.101769736T>C	NCBI36
NG_008690.1:g.70775A>G
NG_008690.2:g.111583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-72A>G MANE Select	ENSP00000448059.1:n.843-72A>G
ENST00000307000.7:c.828-72A>G	ENSP00000303500.2:n.828-72A>G
ENST00000549247.6:n.602-72A>G
ENST00000551114.2:n.433A>G
ENST00000553106.5:c.843-72A>G	ENSP00000448059.1:n.843-72A>G
ENST00000635477.1:c.4-72A>G
NM_000277.1:c.843-72A>G	NP_000268.1:n.843-72A>G
XM_011538422.1:c.843-72A>G	XP_011536724.1:n.843-72A>G
NM_000277.2:c.843-72A>G	NP_000268.1:n.843-72A>G
NM_001354304.1:c.843-72A>G	NP_001341233.1:n.843-72A>G
NM_000277.3:c.843-72A>G MANE Select	NP_000268.1:n.843-72A>G
NM_001354304.2:c.843-72A>G	NP_001341233.1:n.843-72A>G