Canonical Allele Identifier: CA358783513

Gene: AGA

Linked Data

• ClinVar Variation Id: 2230781
• ClinVar RCV Id: RCV002717780
• gnomAD v4: 4-177439575-C-T
• COSMIC: COSM1053480
• MyVariant Identifiers: chr4:g.178360729C>T (hg19) ; chr4:g.177439575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439575C>T , CM000666.2:g.177439575C>T	GRCh38
NC_000004.11:g.178360729C>T , CM000666.1:g.178360729C>T	GRCh37
NC_000004.10:g.178597723C>T	NCBI36
NG_011845.2:g.7929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+1G>A MANE Select	ENSP00000264595.2:n.394+1G>A
ENST00000264595.6:c.394+1G>A	ENSP00000264595.2:n.394+1G>A
ENST00000502310.5:c.49+1G>A	ENSP00000423798.1:n.49+1G>A
ENST00000506853.5:n.428+1G>A
ENST00000510635.1:c.90+1G>A
ENST00000510955.5:n.315+698G>A
NM_000027.3:c.394+1G>A	NP_000018.2:n.394+1G>A
NM_001171988.1:c.394+1G>A	NP_001165459.1:n.394+1G>A
NR_033655.1:n.522+1G>A
XM_006714123.2:c.394+1G>A	XP_006714186.1:n.394+1G>A
XR_001741155.2:n.488+1G>A
NM_000027.4:c.394+1G>A MANE Select	NP_000018.2:n.394+1G>A
NM_001171988.2:c.394+1G>A	NP_001165459.1:n.394+1G>A
NR_033655.2:n.456+1G>A