Canonical Allele Identifier: CA1025888614

Gene: DESI1

Linked Data

• dbSNP Id: rs2067594000
• gnomAD v3: 22-41621067-A-G
• gnomAD v4: 22-41621067-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41621067A>G , CM000684.2:g.41621067A>G	GRCh38
NC_000022.10:g.42017071A>G , CM000684.1:g.42017071A>G	GRCh37
NC_000022.9:g.40347017A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263256.6:c.-228T>C	ENSP00000263256.6:n.-228T>C
XM_005261571.4:c.-228T>C	XP_005261628.1:n.-228T>C
XR_001755216.1:n.11T>C