Canonical Allele Identifier: CA16040935
Gene: AGA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370533
ClinVar RCV Id: RCV000409941
dbSNP Id: rs1057516565

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442248C>T , CM000666.2:g.177442248C>T GRCh38
NC_000004.11:g.178363402C>T , CM000666.1:g.178363402C>T GRCh37
NC_000004.10:g.178600396C>T NCBI36
NG_011845.2:g.5256G>A

Transcript Alleles

HGVS Amino-acid change
NM_000027.3:c.127+1G>A VV NP_000018.2:p.=
NM_001171988.1:c.127+1G>A VV NP_001165459.1:p.=
NR_033655.1:n.255+1G>A
XM_006714123.2:c.127+1G>A XP_006714186.1:p.=
XR_001741155.2:n.221+1G>A
ENST00000264595.6:c.127+1G>A ENSP00000264595.2:p.=
ENST00000506853.5:n.161+1G>A
ENST00000510955.5:n.161+1G>A
ENST00000511231.1:n.161+1G>A