Canonical Allele Identifier: CA358782624

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358584T>A (hg19) ; chr4:g.177437430T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437430T>A , CM000666.2:g.177437430T>A	GRCh38
NC_000004.11:g.178358584T>A , CM000666.1:g.178358584T>A	GRCh37
NC_000004.10:g.178595578T>A	NCBI36
NG_011845.2:g.10074A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.597A>T MANE Select	ENSP00000264595.2:p.Glu199Asp
ENST00000264595.6:c.597A>T	ENSP00000264595.2:p.Glu199Asp
ENST00000502310.5:c.252A>T	ENSP00000423798.1:p.Glu84Asp
ENST00000506853.5:n.631A>T
ENST00000510635.1:c.293A>T
ENST00000510955.5:n.518A>T
NM_000027.3:c.597A>T	NP_000018.2:p.Glu199Asp
NM_001171988.1:c.597A>T	NP_001165459.1:p.Glu199Asp
NR_033655.1:n.725A>T
XM_006714123.2:c.597A>T	XP_006714186.1:p.Glu199Asp
XR_001741155.2:n.691A>T
NM_000027.4:c.597A>T MANE Select	NP_000018.2:p.Glu199Asp
NM_001171988.2:c.597A>T	NP_001165459.1:p.Glu199Asp
NR_033655.2:n.659A>T