Canonical Allele Identifier: CA442333176

Gene: AGA

Linked Data

• ClinVar Variation Id: 1115966
• ClinVar RCV Id: RCV001444184
• dbSNP Id: rs1737061654
• gnomAD v4: 4-177442313-C-T
• MyVariant Identifiers: chr4:g.178363467C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442313C>T , CM000666.2:g.177442313C>T	GRCh38
NC_000004.11:g.178363467C>T , CM000666.1:g.178363467C>T	GRCh37
NC_000004.10:g.178600461C>T	NCBI36
NG_011845.2:g.5191G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.63G>A MANE Select	ENSP00000264595.2:p.Val21=
ENST00000264595.6:c.63G>A	ENSP00000264595.2:p.Val21=
ENST00000506853.5:n.97G>A
ENST00000510955.5:n.97G>A
ENST00000511231.1:n.97G>A
NM_000027.3:c.63G>A	NP_000018.2:p.Val21=
NM_001171988.1:c.63G>A	NP_001165459.1:p.Val21=
NR_033655.1:n.191G>A
XM_006714123.2:c.63G>A	XP_006714186.1:p.Val21=
XR_001741155.2:n.157G>A
NM_000027.4:c.63G>A MANE Select	NP_000018.2:p.Val21=
NM_001171988.2:c.63G>A	NP_001165459.1:p.Val21=
NR_033655.2:n.125G>A