Canonical Allele Identifier: CA3146804
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 348230
ClinVar RCV Id: RCV000381875 RCV002520230
dbSNP Id: rs375663828
ExAC: 4:178355548 C / T
gnomAD v2: 4-178355548-C-T
gnomAD v3: 4-177434394-C-T
gnomAD v4: 4-177434394-C-T
MyVariant Identifiers: chr4:g.178355548C>T (hg19) chr4:g.177434394C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434394C>T , CM000666.2:g.177434394C>T GRCh38
NC_000004.11:g.178355548C>T , CM000666.1:g.178355548C>T GRCh37
NC_000004.10:g.178592542C>T NCBI36
NG_011845.2:g.13110G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.794G>A MANE Select ENSP00000264595.2:p.Arg265His
ENST00000264595.6:c.794G>A ENSP00000264595.2:p.Arg265His
ENST00000502310.5:c.365G>A ENSP00000423798.1:p.Arg122His
ENST00000506853.5:n.752G>A
NM_000027.3:c.794G>A NP_000018.2:p.Arg265His
NM_001171988.1:c.764G>A NP_001165459.1:p.Arg255His
NR_033655.1:n.846G>A
XR_001741155.2:n.866G>A
NM_000027.4:c.794G>A MANE Select NP_000018.2:p.Arg265His
NM_001171988.2:c.764G>A NP_001165459.1:p.Arg255His
NR_033655.2:n.780G>A
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