Canonical Allele Identifier: CA144025
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 55948
ClinVar RCV Id: RCV000049357
dbSNP Id: rs386833429

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442332A>C , CM000666.2:g.177442332A>C GRCh38
NC_000004.11:g.178363486A>C , CM000666.1:g.178363486A>C GRCh37
NC_000004.10:g.178600480A>C NCBI36
NG_011845.2:g.5172T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.44T>G MANE Select ENSP00000264595.2:p.Leu15Arg
ENST00000264595.6:c.44T>G ENSP00000264595.2:p.Leu15Arg
ENST00000506853.5:n.78T>G
ENST00000510955.5:n.78T>G
ENST00000511231.1:n.78T>G
NM_000027.3:c.44T>G NP_000018.2:p.Leu15Arg
NM_001171988.1:c.44T>G NP_001165459.1:p.Leu15Arg
NR_033655.1:n.172T>G
XM_006714123.2:c.44T>G XP_006714186.1:p.Leu15Arg
XR_001741155.2:n.138T>G
NM_000027.4:c.44T>G MANE Select NP_000018.2:p.Leu15Arg
NM_001171988.2:c.44T>G NP_001165459.1:p.Leu15Arg
NR_033655.2:n.106T>G