Canonical Allele Identifier: CA3147101
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs753954478

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442397G>A , CM000666.2:g.177442397G>A GRCh38
NC_000004.11:g.178363551G>A , CM000666.1:g.178363551G>A GRCh37
NC_000004.10:g.178600545G>A NCBI36
NG_011845.2:g.5107C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-22C>T MANE Select ENSP00000264595.2:n.-22C>T
ENST00000264595.6:c.-22C>T ENSP00000264595.2:n.-22C>T
ENST00000506853.5:n.13C>T
ENST00000510955.5:n.13C>T
ENST00000511231.1:n.13C>T
NM_000027.3:c.-22C>T NP_000018.2:n.-22C>T
NM_001171988.1:c.-22C>T NP_001165459.1:n.-22C>T
NR_033655.1:n.107C>T
XM_006714123.2:c.-22C>T XP_006714186.1:n.-22C>T
XR_001741155.2:n.73C>T
NM_000027.4:c.-22C>T MANE Select NP_000018.2:n.-22C>T
NM_001171988.2:c.-22C>T NP_001165459.1:n.-22C>T
NR_033655.2:n.41C>T