Canonical Allele Identifier: CA660863623

Gene:

Linked Data

• dbSNP Id: rs1478706946
• gnomAD v3: 10-122458129-A-G
• gnomAD v4: 10-122458129-A-G
• MyVariant Identifiers: chr10:g.124217645A>G (hg19) ; chr10:g.122458129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122458129A>G , CM000672.2:g.122458129A>G	GRCh38
NC_000010.10:g.124217645A>G , CM000672.1:g.124217645A>G	GRCh37
NC_000010.9:g.124207635A>G	NCBI36
NG_011554.1:g.1605A>G
NG_011725.1:g.8467A>G

Transcript Alleles

HGVS	Amino-acid change
XR_946382.1:n.1827+366T>C
XR_946383.1:n.1827+366T>C
XR_946384.1:n.1576+366T>C
XR_946385.1:n.1827+366T>C
XR_946382.2:n.1855+366T>C
XR_946383.2:n.1855+366T>C
XR_946384.2:n.1580+366T>C
XR_946385.2:n.1855+366T>C