Canonical Allele Identifier: CA358783253

Gene: AGA

Linked Data

• dbSNP Id: rs1290123495
• gnomAD v2: 4-178359932-C-A
• gnomAD v4: 4-177438778-C-A
• MyVariant Identifiers: chr4:g.178359932C>A (hg19) ; chr4:g.177438778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438778C>A , CM000666.2:g.177438778C>A	GRCh38
NC_000004.11:g.178359932C>A , CM000666.1:g.178359932C>A	GRCh37
NC_000004.10:g.178596926C>A	NCBI36
NG_011845.2:g.8726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.474G>T MANE Select	ENSP00000264595.2:p.Trp158Cys
ENST00000264595.6:c.474G>T	ENSP00000264595.2:p.Trp158Cys
ENST00000502310.5:c.129G>T	ENSP00000423798.1:p.Trp43Cys
ENST00000506853.5:n.508G>T
ENST00000510635.1:c.170G>T
ENST00000510955.5:n.395G>T
NM_000027.3:c.474G>T	NP_000018.2:p.Trp158Cys
NM_001171988.1:c.474G>T	NP_001165459.1:p.Trp158Cys
NR_033655.1:n.602G>T
XM_006714123.2:c.474G>T	XP_006714186.1:p.Trp158Cys
XR_001741155.2:n.568G>T
NM_000027.4:c.474G>T MANE Select	NP_000018.2:p.Trp158Cys
NM_001171988.2:c.474G>T	NP_001165459.1:p.Trp158Cys
NR_033655.2:n.536G>T