Canonical Allele Identifier: CA211665912

Gene:

Linked Data

• dbSNP Id: rs190944530
• gnomAD v2: 10-96522180-G-T
• gnomAD v3: 10-94762423-G-T
• gnomAD v4: 10-94762423-G-T
• MyVariant Identifiers: chr10:g.96522180G>T (hg19) ; chr10:g.94762423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762423G>T , CM000672.2:g.94762423G>T	GRCh38
NC_000010.10:g.96522180G>T , CM000672.1:g.96522180G>T	GRCh37
NC_000010.9:g.96512170G>T	NCBI36
NG_008384.2:g.4718G>T
NG_008384.3:g.4743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464755.1:c.932-12635G>T	ENSP00000483243.1:n.932-12635G>T