Canonical Allele Identifier: CA358782172

Gene: AGA

Linked Data

• dbSNP Id: rs1226362869
• gnomAD v2: 4-178355570-C-T
• gnomAD v4: 4-177434416-C-T
• MyVariant Identifiers: chr4:g.178355570C>T (hg19) ; chr4:g.177434416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434416C>T , CM000666.2:g.177434416C>T	GRCh38
NC_000004.11:g.178355570C>T , CM000666.1:g.178355570C>T	GRCh37
NC_000004.10:g.178592564C>T	NCBI36
NG_011845.2:g.13088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.772G>A MANE Select	ENSP00000264595.2:p.Gly258Arg
ENST00000264595.6:c.772G>A	ENSP00000264595.2:p.Gly258Arg
ENST00000502310.5:c.343G>A	ENSP00000423798.1:p.Gly115Arg
ENST00000506853.5:n.730G>A
NM_000027.3:c.772G>A	NP_000018.2:p.Gly258Arg
NM_001171988.1:c.742G>A	NP_001165459.1:p.Gly248Arg
NR_033655.1:n.824G>A
XM_006714123.2:c.*66G>A	XP_006714186.1:n.*66G>A
XR_001741155.2:n.844G>A
NM_000027.4:c.772G>A MANE Select	NP_000018.2:p.Gly258Arg
NM_001171988.2:c.742G>A	NP_001165459.1:p.Gly248Arg
NR_033655.2:n.758G>A