Canonical Allele Identifier: CA16040933
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 371514
ClinVar RCV Id: RCV000410299
dbSNP Id: rs1057517329

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438762G>A , CM000666.2:g.177438762G>A GRCh38
NC_000004.11:g.178359916G>A , CM000666.1:g.178359916G>A GRCh37
NC_000004.10:g.178596910G>A NCBI36
NG_011845.2:g.8742C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.490C>T MANE Select ENSP00000264595.2:p.Gln164Ter
ENST00000264595.6:c.490C>T ENSP00000264595.2:p.Gln164Ter
ENST00000502310.5:c.145C>T ENSP00000423798.1:p.Gln49Ter
ENST00000506853.5:n.524C>T
ENST00000510635.1:c.186C>T
ENST00000510955.5:n.411C>T
NM_000027.3:c.490C>T NP_000018.2:p.Gln164Ter
NM_001171988.1:c.490C>T NP_001165459.1:p.Gln164Ter
NR_033655.1:n.618C>T
XM_006714123.2:c.490C>T XP_006714186.1:p.Gln164Ter
XR_001741155.2:n.584C>T
NM_000027.4:c.490C>T MANE Select NP_000018.2:p.Gln164Ter
NM_001171988.2:c.490C>T NP_001165459.1:p.Gln164Ter
NR_033655.2:n.552C>T