Canonical Allele Identifier: CA2499217174

Gene: AGA

Linked Data

• ClinVar Variation Id: 1123084
• ClinVar RCV Id: RCV001453990
• dbSNP Id: rs2111021417

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440265G>A , CM000666.2:g.177440265G>A	GRCh38
NC_000004.11:g.178361419G>A , CM000666.1:g.178361419G>A	GRCh37
NC_000004.10:g.178598413G>A	NCBI36
NG_011845.2:g.7239C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+8C>T MANE Select	ENSP00000264595.2:n.281+8C>T
ENST00000264595.6:c.281+8C>T	ENSP00000264595.2:n.281+8C>T
ENST00000506853.5:n.315+8C>T
ENST00000510955.5:n.315+8C>T
ENST00000511231.1:n.323C>T
NM_000027.3:c.281+8C>T	NP_000018.2:n.281+8C>T
NM_001171988.1:c.281+8C>T	NP_001165459.1:n.281+8C>T
NR_033655.1:n.409+8C>T
XM_006714123.2:c.281+8C>T	XP_006714186.1:n.281+8C>T
XR_001741155.2:n.375+8C>T
NM_000027.4:c.281+8C>T MANE Select	NP_000018.2:n.281+8C>T
NM_001171988.2:c.281+8C>T	NP_001165459.1:n.281+8C>T
NR_033655.2:n.343+8C>T