Canonical Allele Identifier: CA214412874

Gene:

Linked Data

• dbSNP Id: rs990621156
• gnomAD v3: 10-122458118-T-G
• gnomAD v4: 10-122458118-T-G
• MyVariant Identifiers: chr10:g.124217634T>G (hg19) ; chr10:g.122458118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122458118T>G , CM000672.2:g.122458118T>G	GRCh38
NC_000010.10:g.124217634T>G , CM000672.1:g.124217634T>G	GRCh37
NC_000010.9:g.124207624T>G	NCBI36
NG_011554.1:g.1594T>G
NG_011725.1:g.8456T>G

Transcript Alleles

HGVS	Amino-acid change
XR_946382.1:n.1827+377A>C
XR_946383.1:n.1827+377A>C
XR_946384.1:n.1576+377A>C
XR_946385.1:n.1827+377A>C
XR_946382.2:n.1855+377A>C
XR_946383.2:n.1855+377A>C
XR_946384.2:n.1580+377A>C
XR_946385.2:n.1855+377A>C