Canonical Allele Identifier: CA358782629

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358585T>G (hg19) ; chr4:g.177437431T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437431T>G , CM000666.2:g.177437431T>G	GRCh38
NC_000004.11:g.178358585T>G , CM000666.1:g.178358585T>G	GRCh37
NC_000004.10:g.178595579T>G	NCBI36
NG_011845.2:g.10073A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.596A>C MANE Select	ENSP00000264595.2:p.Glu199Ala
ENST00000264595.6:c.596A>C	ENSP00000264595.2:p.Glu199Ala
ENST00000502310.5:c.251A>C	ENSP00000423798.1:p.Glu84Ala
ENST00000506853.5:n.630A>C
ENST00000510635.1:c.292A>C
ENST00000510955.5:n.517A>C
NM_000027.3:c.596A>C	NP_000018.2:p.Glu199Ala
NM_001171988.1:c.596A>C	NP_001165459.1:p.Glu199Ala
NR_033655.1:n.724A>C
XM_006714123.2:c.596A>C	XP_006714186.1:p.Glu199Ala
XR_001741155.2:n.690A>C
NM_000027.4:c.596A>C MANE Select	NP_000018.2:p.Glu199Ala
NM_001171988.2:c.596A>C	NP_001165459.1:p.Glu199Ala
NR_033655.2:n.658A>C