Canonical Allele Identifier: CA24011331
Gene: SLC35D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2466005
ClinVar RCV Id: RCV003191801
dbSNP Id: rs758168156
gnomAD v2: 1-67519624-C-G
gnomAD v3: 1-67053941-C-G
gnomAD v4: 1-67053941-C-G
MyVariant Identifiers: chr1:g.67519624C>G (hg19) chr1:g.67053941C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053941C>G , CM000663.2:g.67053941C>G GRCh38
NC_000001.10:g.67519624C>G , CM000663.1:g.67519624C>G GRCh37
NC_000001.9:g.67292212C>G NCBI36
NG_012933.1:g.5457G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.73G>C MANE Select ENSP00000235345.5:p.Asp25His
ENST00000235345.5:c.73G>C ENSP00000235345.5:p.Asp25His
NM_015139.2:c.73G>C NP_055954.1:p.Asp25His
XM_006710478.1:c.73G>C XP_006710541.1:p.Asp25His
XM_011541070.1:c.73G>C XP_011539372.1:p.Asp25His
XM_006710478.2:c.73G>C XP_006710541.1:p.Asp25His
XM_011541070.2:c.73G>C XP_011539372.1:p.Asp25His
XR_001737057.2:n.483G>C
XR_001737058.2:n.476G>C
NM_015139.3:c.73G>C MANE Select NP_055954.1:p.Asp25His
Search 100 bp 5'
Search 100 bp 3'