Canonical Allele Identifier: CA358784513

Gene: AGA

Linked Data

• dbSNP Id: rs1489211352
• gnomAD v4: 4-177440376-C-A
• MyVariant Identifiers: chr4:g.178361530C>A (hg19) ; chr4:g.177440376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440376C>A , CM000666.2:g.177440376C>A	GRCh38
NC_000004.11:g.178361530C>A , CM000666.1:g.178361530C>A	GRCh37
NC_000004.10:g.178598524C>A	NCBI36
NG_011845.2:g.7128G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.178G>T MANE Select	ENSP00000264595.2:p.Gly60Cys
ENST00000264595.6:c.178G>T	ENSP00000264595.2:p.Gly60Cys
ENST00000506853.5:n.212G>T
ENST00000510955.5:n.212G>T
ENST00000511231.1:n.212G>T
NM_000027.3:c.178G>T	NP_000018.2:p.Gly60Cys
NM_001171988.1:c.178G>T	NP_001165459.1:p.Gly60Cys
NR_033655.1:n.306G>T
XM_006714123.2:c.178G>T	XP_006714186.1:p.Gly60Cys
XR_001741155.2:n.272G>T
NM_000027.4:c.178G>T MANE Select	NP_000018.2:p.Gly60Cys
NM_001171988.2:c.178G>T	NP_001165459.1:p.Gly60Cys
NR_033655.2:n.240G>T