Canonical Allele Identifier: CA358782348

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355636C>T (hg19) ; chr4:g.177434482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434482C>T , CM000666.2:g.177434482C>T	GRCh38
NC_000004.11:g.178355636C>T , CM000666.1:g.178355636C>T	GRCh37
NC_000004.10:g.178592630C>T	NCBI36
NG_011845.2:g.13022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.706G>A MANE Select	ENSP00000264595.2:p.Gly236Arg
ENST00000264595.6:c.706G>A	ENSP00000264595.2:p.Gly236Arg
ENST00000502310.5:c.278-1G>A	ENSP00000423798.1:n.278-1G>A
ENST00000506853.5:n.664G>A
ENST00000510635.1:c.373-1G>A
NM_000027.3:c.706G>A	NP_000018.2:p.Gly236Arg
NM_001171988.1:c.677-1G>A	NP_001165459.1:n.677-1G>A
NR_033655.1:n.758G>A
XM_006714123.2:c.684G>A	XP_006714186.1:p.Ter228=
XR_001741155.2:n.778G>A
NM_000027.4:c.706G>A MANE Select	NP_000018.2:p.Gly236Arg
NM_001171988.2:c.677-1G>A	NP_001165459.1:n.677-1G>A
NR_033655.2:n.692G>A