Canonical Allele Identifier: CA110792303
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs906346457
gnomAD v3: 4-177442592-C-T
gnomAD v4: 4-177442592-C-T
MyVariant Identifiers: chr4:g.178363746C>T (hg19) chr4:g.177442592C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442592C>T , CM000666.2:g.177442592C>T GRCh38
NC_000004.11:g.178363746C>T , CM000666.1:g.178363746C>T GRCh37
NC_000004.10:g.178600740C>T NCBI36
NG_011845.2:g.4912G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+11C>T
Search 100 bp 5'
Search 100 bp 3'