Canonical Allele Identifier: CA556485663
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1266961800

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442418C>T , CM000666.2:g.177442418C>T GRCh38
NC_000004.11:g.178363572C>T , CM000666.1:g.178363572C>T GRCh37
NC_000004.10:g.178600566C>T NCBI36
NG_011845.2:g.5086G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-43G>A MANE Select ENSP00000264595.2:n.-43G>A
ENST00000264595.6:c.-43G>A ENSP00000264595.2:n.-43G>A
NM_000027.3:c.-43G>A NP_000018.2:n.-43G>A
NM_001171988.1:c.-43G>A NP_001165459.1:n.-43G>A
NR_033655.1:n.86G>A
XM_006714123.2:c.-43G>A XP_006714186.1:n.-43G>A
XR_001741155.2:n.52G>A
NM_000027.4:c.-43G>A MANE Select NP_000018.2:n.-43G>A
NM_001171988.2:c.-43G>A NP_001165459.1:n.-43G>A
NR_033655.2:n.20G>A