Canonical Allele Identifier: CA3147088
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs775687506

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442377C>A , CM000666.2:g.177442377C>A GRCh38
NC_000004.11:g.178363531C>A , CM000666.1:g.178363531C>A GRCh37
NC_000004.10:g.178600525C>A NCBI36
NG_011845.2:g.5127G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-2G>T MANE Select ENSP00000264595.2:n.-2G>T
ENST00000264595.6:c.-2G>T ENSP00000264595.2:n.-2G>T
ENST00000506853.5:n.33G>T
ENST00000510955.5:n.33G>T
ENST00000511231.1:n.33G>T
NM_000027.3:c.-2G>T NP_000018.2:n.-2G>T
NM_001171988.1:c.-2G>T NP_001165459.1:n.-2G>T
NR_033655.1:n.127G>T
XM_006714123.2:c.-2G>T XP_006714186.1:n.-2G>T
XR_001741155.2:n.93G>T
NM_000027.4:c.-2G>T MANE Select NP_000018.2:n.-2G>T
NM_001171988.2:c.-2G>T NP_001165459.1:n.-2G>T
NR_033655.2:n.61G>T