Canonical Allele Identifier: CA358782618

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358582T>A (hg19) ; chr4:g.177437428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437428T>A , CM000666.2:g.177437428T>A	GRCh38
NC_000004.11:g.178358582T>A , CM000666.1:g.178358582T>A	GRCh37
NC_000004.10:g.178595576T>A	NCBI36
NG_011845.2:g.10076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.599A>T MANE Select	ENSP00000264595.2:p.Asp200Val
ENST00000264595.6:c.599A>T	ENSP00000264595.2:p.Asp200Val
ENST00000502310.5:c.254A>T	ENSP00000423798.1:p.Asp85Val
ENST00000506853.5:n.633A>T
ENST00000510635.1:c.295A>T
ENST00000510955.5:n.520A>T
NM_000027.3:c.599A>T	NP_000018.2:p.Asp200Val
NM_001171988.1:c.599A>T	NP_001165459.1:p.Asp200Val
NR_033655.1:n.727A>T
XM_006714123.2:c.599A>T	XP_006714186.1:p.Asp200Val
XR_001741155.2:n.693A>T
NM_000027.4:c.599A>T MANE Select	NP_000018.2:p.Asp200Val
NM_001171988.2:c.599A>T	NP_001165459.1:p.Asp200Val
NR_033655.2:n.661A>T