Canonical Allele Identifier: CA660863646

Gene:

Linked Data

• dbSNP Id: rs1219259315
• gnomAD v3: 10-122458158-C-T
• gnomAD v4: 10-122458158-C-T
• MyVariant Identifiers: chr10:g.124217674C>T (hg19) ; chr10:g.122458158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122458158C>T , CM000672.2:g.122458158C>T	GRCh38
NC_000010.10:g.124217674C>T , CM000672.1:g.124217674C>T	GRCh37
NC_000010.9:g.124207664C>T	NCBI36
NG_011554.1:g.1634C>T
NG_011725.1:g.8496C>T

Transcript Alleles

HGVS	Amino-acid change
XR_946382.1:n.1827+337G>A
XR_946383.1:n.1827+337G>A
XR_946384.1:n.1576+337G>A
XR_946385.1:n.1827+337G>A
XR_946382.2:n.1855+337G>A
XR_946383.2:n.1855+337G>A
XR_946384.2:n.1580+337G>A
XR_946385.2:n.1855+337G>A