Canonical Allele Identifier: CA945946270

Gene:

Linked Data

• gnomAD v3: 12-28045208-T-C
• gnomAD v4: 12-28045208-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045208T>C , CM000674.2:g.28045208T>C	GRCh38
NC_000012.11:g.28198141T>C , CM000674.1:g.28198141T>C	GRCh37
NC_000012.10:g.28089408T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6250A>G