Canonical Allele Identifier: CA110792330
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs1030053282
gnomAD v3: 4-177442617-T-C
gnomAD v4: 4-177442617-T-C
MyVariant Identifiers: chr4:g.178363771T>C (hg19) chr4:g.177442617T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442617T>C , CM000666.2:g.177442617T>C GRCh38
NC_000004.11:g.178363771T>C , CM000666.1:g.178363771T>C GRCh37
NC_000004.10:g.178600765T>C NCBI36
NG_011845.2:g.4887A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+36T>C
Search 100 bp 5'
Search 100 bp 3'