Canonical Allele Identifier: CA3147044
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 1674540
ClinVar RCV Id: RCV002208334
dbSNP Id: rs376430029
ExAC: 4:178363390 C / T
gnomAD v2: 4-178363390-C-T
gnomAD v3: 4-177442236-C-T
gnomAD v4: 4-177442236-C-T
MyVariant Identifiers: chr4:g.178363390C>T (hg19) chr4:g.177442236C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442236C>T , CM000666.2:g.177442236C>T GRCh38
NC_000004.11:g.178363390C>T , CM000666.1:g.178363390C>T GRCh37
NC_000004.10:g.178600384C>T NCBI36
NG_011845.2:g.5268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.127+13G>A MANE Select ENSP00000264595.2:n.127+13G>A
ENST00000264595.6:c.127+13G>A ENSP00000264595.2:n.127+13G>A
ENST00000506853.5:n.161+13G>A
ENST00000510955.5:n.161+13G>A
ENST00000511231.1:n.161+13G>A
NM_000027.3:c.127+13G>A NP_000018.2:n.127+13G>A
NM_001171988.1:c.127+13G>A NP_001165459.1:n.127+13G>A
NR_033655.1:n.255+13G>A
XM_006714123.2:c.127+13G>A XP_006714186.1:n.127+13G>A
XR_001741155.2:n.221+13G>A
NM_000027.4:c.127+13G>A MANE Select NP_000018.2:n.127+13G>A
NM_001171988.2:c.127+13G>A NP_001165459.1:n.127+13G>A
NR_033655.2:n.189+13G>A
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