Canonical Allele Identifier: CA16042554
Gene: AGA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373678
ClinVar RCV Id: RCV000413169

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437521T>C , CM000666.2:g.177437521T>C GRCh38
NC_000004.11:g.178358675T>C , CM000666.1:g.178358675T>C GRCh37
NC_000004.10:g.178595669T>C NCBI36
NG_011845.2:g.9983A>G

Transcript Alleles

HGVS Amino-acid change
NM_000027.3:c.508-2A>G VV NP_000018.2:p.=
NM_001171988.1:c.508-2A>G VV NP_001165459.1:p.=
NR_033655.1:n.636-2A>G
XM_006714123.2:c.508-2A>G XP_006714186.1:p.=
XR_001741155.2:n.602-2A>G
NM_000027.4:c.508-2A>G VV MANE Preferred NP_000018.2:p.=
ENST00000264595.6:c.508-2A>G ENSP00000264595.2:p.=
ENST00000502310.5:n.163-2A>G ENSP00000423798.1:p.=
ENST00000506853.5:n.542-2A>G
ENST00000510635.1:n.204-2A>G
ENST00000510955.5:n.429-2A>G