Canonical Allele Identifier: CA2406336427
Gene: DESI1 HGNC NCBI

Linked Data

dbSNP Id: rs2067594550
gnomAD v4: 22-41621093-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41621093T>C , CM000684.2:g.41621093T>C GRCh38
NC_000022.10:g.42017097T>C , CM000684.1:g.42017097T>C GRCh37
NC_000022.9:g.40347043T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263256.6:c.-254A>G ENSP00000263256.6:n.-254A>G
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