Canonical Allele Identifier: CA358782651

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358590T>G (hg19) ; chr4:g.177437436T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437436T>G , CM000666.2:g.177437436T>G	GRCh38
NC_000004.11:g.178358590T>G , CM000666.1:g.178358590T>G	GRCh37
NC_000004.10:g.178595584T>G	NCBI36
NG_011845.2:g.10068A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.591A>C MANE Select	ENSP00000264595.2:p.Glu197Asp
ENST00000264595.6:c.591A>C	ENSP00000264595.2:p.Glu197Asp
ENST00000502310.5:c.246A>C	ENSP00000423798.1:p.Glu82Asp
ENST00000506853.5:n.625A>C
ENST00000510635.1:c.287A>C
ENST00000510955.5:n.512A>C
NM_000027.3:c.591A>C	NP_000018.2:p.Glu197Asp
NM_001171988.1:c.591A>C	NP_001165459.1:p.Glu197Asp
NR_033655.1:n.719A>C
XM_006714123.2:c.591A>C	XP_006714186.1:p.Glu197Asp
XR_001741155.2:n.685A>C
NM_000027.4:c.591A>C MANE Select	NP_000018.2:p.Glu197Asp
NM_001171988.2:c.591A>C	NP_001165459.1:p.Glu197Asp
NR_033655.2:n.653A>C