Canonical Allele Identifier: CA191701669
Gene:

Linked Data

dbSNP Id: rs571123204
gnomAD v2: 9-25551125-A-T
gnomAD v3: 9-25551127-A-T
gnomAD v4: 9-25551127-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551127A>T , CM000671.2:g.25551127A>T GRCh38
NC_000009.11:g.25551125A>T , CM000671.1:g.25551125A>T GRCh37
NC_000009.10:g.25541125A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-555T>A
XR_929525.2:n.674-555T>A