Canonical Allele Identifier: CA3146798
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 2146129
ClinVar RCV Id: RCV003066972
dbSNP Id: rs373963391
ExAC: 4:178355516 C / T
gnomAD v2: 4-178355516-C-T
gnomAD v3: 4-177434362-C-T
gnomAD v4: 4-177434362-C-T
MyVariant Identifiers: chr4:g.178355516C>T (hg19) chr4:g.177434362C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434362C>T , CM000666.2:g.177434362C>T GRCh38
NC_000004.11:g.178355516C>T , CM000666.1:g.178355516C>T GRCh37
NC_000004.10:g.178592510C>T NCBI36
NG_011845.2:g.13142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.806+20G>A MANE Select ENSP00000264595.2:n.806+20G>A
ENST00000264595.6:c.806+20G>A ENSP00000264595.2:n.806+20G>A
ENST00000502310.5:c.377+20G>A ENSP00000423798.1:n.377+20G>A
NM_000027.3:c.806+20G>A NP_000018.2:n.806+20G>A
NM_001171988.1:c.776+20G>A NP_001165459.1:n.776+20G>A
NR_033655.1:n.858+20G>A
XR_001741155.2:n.878+20G>A
NM_000027.4:c.806+20G>A MANE Select NP_000018.2:n.806+20G>A
NM_001171988.2:c.776+20G>A NP_001165459.1:n.776+20G>A
NR_033655.2:n.792+20G>A
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