Canonical Allele Identifier: CA144033
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 55953
ClinVar RCV Id: RCV000049362
dbSNP Id: rs386833434

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434418G>A , CM000666.2:g.177434418G>A GRCh38
NC_000004.11:g.178355572G>A , CM000666.1:g.178355572G>A GRCh37
NC_000004.10:g.178592566G>A NCBI36
NG_011845.2:g.13086C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.770C>T MANE Select ENSP00000264595.2:p.Thr257Ile
ENST00000264595.6:c.770C>T ENSP00000264595.2:p.Thr257Ile
ENST00000502310.5:n.341C>T ENSP00000423798.1:p.Thr114Ile
ENST00000506853.5:n.728C>T
NM_000027.3:c.770C>T NP_000018.2:p.Thr257Ile
NM_001171988.1:c.740C>T NP_001165459.1:p.Thr247Ile
NR_033655.1:n.822C>T
XM_006714123.2:c.*64C>T XP_006714186.1:p.=
XR_001741155.2:n.842C>T
NM_000027.4:c.770C>T MANE Select NP_000018.2:p.Thr257Ile
NM_001171988.2:c.740C>T NP_001165459.1:p.Thr247Ile
NR_033655.2:n.756C>T