Canonical Allele Identifier: CA596378535

Gene:

Linked Data

• dbSNP Id: rs1215415893
• gnomAD v2: 10-124217635-G-A
• gnomAD v3: 10-122458119-G-A
• gnomAD v4: 10-122458119-G-A
• MyVariant Identifiers: chr10:g.124217635G>A (hg19) ; chr10:g.122458119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122458119G>A , CM000672.2:g.122458119G>A	GRCh38
NC_000010.10:g.124217635G>A , CM000672.1:g.124217635G>A	GRCh37
NC_000010.9:g.124207625G>A	NCBI36
NG_011554.1:g.1595G>A
NG_011725.1:g.8457G>A

Transcript Alleles

HGVS	Amino-acid change
XR_946382.1:n.1827+376C>T
XR_946383.1:n.1827+376C>T
XR_946384.1:n.1576+376C>T
XR_946385.1:n.1827+376C>T
XR_946382.2:n.1855+376C>T
XR_946383.2:n.1855+376C>T
XR_946384.2:n.1580+376C>T
XR_946385.2:n.1855+376C>T