Canonical Allele Identifier: CA3146979

Gene: AGA

Linked Data

• ClinVar Variation Id: 2159658
• ClinVar RCV Id: RCV003072934
• dbSNP Id: rs757523971
• ExAC: 4:178361416 G / A
• gnomAD v2: 4-178361416-G-A
• gnomAD v4: 4-177440262-G-A
• MyVariant Identifiers: chr4:g.178361416G>A (hg19) ; chr4:g.177440262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440262G>A , CM000666.2:g.177440262G>A	GRCh38
NC_000004.11:g.178361416G>A , CM000666.1:g.178361416G>A	GRCh37
NC_000004.10:g.178598410G>A	NCBI36
NG_011845.2:g.7242C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+11C>T MANE Select	ENSP00000264595.2:n.281+11C>T
ENST00000264595.6:c.281+11C>T	ENSP00000264595.2:n.281+11C>T
ENST00000506853.5:n.315+11C>T
ENST00000510955.5:n.315+11C>T
ENST00000511231.1:n.326C>T
NM_000027.3:c.281+11C>T	NP_000018.2:n.281+11C>T
NM_001171988.1:c.281+11C>T	NP_001165459.1:n.281+11C>T
NR_033655.1:n.409+11C>T
XM_006714123.2:c.281+11C>T	XP_006714186.1:n.281+11C>T
XR_001741155.2:n.375+11C>T
NM_000027.4:c.281+11C>T MANE Select	NP_000018.2:n.281+11C>T
NM_001171988.2:c.281+11C>T	NP_001165459.1:n.281+11C>T
NR_033655.2:n.343+11C>T