Canonical Allele Identifier: CA2529119455
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442390G>T , CM000666.2:g.177442390G>T GRCh38
NC_000004.11:g.178363544G>T , CM000666.1:g.178363544G>T GRCh37
NC_000004.10:g.178600538G>T NCBI36
NG_011845.2:g.5114C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-15C>A MANE Select ENSP00000264595.2:n.-15C>A
ENST00000264595.6:c.-15C>A ENSP00000264595.2:n.-15C>A
ENST00000506853.5:n.20C>A
ENST00000510955.5:n.20C>A
ENST00000511231.1:n.20C>A
NM_000027.3:c.-15C>A NP_000018.2:n.-15C>A
NM_001171988.1:c.-15C>A NP_001165459.1:n.-15C>A
NR_033655.1:n.114C>A
XM_006714123.2:c.-15C>A XP_006714186.1:n.-15C>A
XR_001741155.2:n.80C>A
NM_000027.4:c.-15C>A MANE Select NP_000018.2:n.-15C>A
NM_001171988.2:c.-15C>A NP_001165459.1:n.-15C>A
NR_033655.2:n.48C>A