Canonical Allele Identifier: CA556485618
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs764496267

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442378C>G , CM000666.2:g.177442378C>G GRCh38
NC_000004.11:g.178363532C>G , CM000666.1:g.178363532C>G GRCh37
NC_000004.10:g.178600526C>G NCBI36
NG_011845.2:g.5126G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-3G>C MANE Select ENSP00000264595.2:n.-3G>C
ENST00000264595.6:c.-3G>C ENSP00000264595.2:n.-3G>C
ENST00000506853.5:n.32G>C
ENST00000510955.5:n.32G>C
ENST00000511231.1:n.32G>C
NM_000027.3:c.-3G>C NP_000018.2:n.-3G>C
NM_001171988.1:c.-3G>C NP_001165459.1:n.-3G>C
NR_033655.1:n.126G>C
XM_006714123.2:c.-3G>C XP_006714186.1:n.-3G>C
XR_001741155.2:n.92G>C
NM_000027.4:c.-3G>C MANE Select NP_000018.2:n.-3G>C
NM_001171988.2:c.-3G>C NP_001165459.1:n.-3G>C
NR_033655.2:n.60G>C