Canonical Allele Identifier: CA898862
Gene: SLC35D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 440280
ClinVar RCV Id: RCV000507444 RCV000727150 RCV001078524 RCV002279293 RCV002524926
dbSNP Id: rs143218310
ExAC: 1:67486114 C / T
gnomAD v2: 1-67486114-C-T
gnomAD v3: 1-67020431-C-T
gnomAD v4: 1-67020431-C-T
MyVariant Identifiers: chr1:g.67486114C>T (hg19) chr1:g.67020431C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67020431C>T , CM000663.2:g.67020431C>T GRCh38
NC_000001.10:g.67486114C>T , CM000663.1:g.67486114C>T GRCh37
NC_000001.9:g.67258702C>T NCBI36
NG_012933.1:g.38967G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.814G>A MANE Select ENSP00000235345.5:p.Ala272Thr
ENST00000235345.5:c.814G>A ENSP00000235345.5:p.Ala272Thr
NM_015139.2:c.814G>A NP_055954.1:p.Ala272Thr
XM_006710478.1:c.895G>A XP_006710541.1:p.Ala299Thr
XM_011541070.1:c.895G>A XP_011539372.1:p.Ala299Thr
XM_006710478.2:c.895G>A XP_006710541.1:p.Ala299Thr
XM_011541070.2:c.895G>A XP_011539372.1:p.Ala299Thr
XR_001737057.2:n.1305G>A
XR_001737058.2:n.1217G>A
NM_015139.3:c.814G>A MANE Select NP_055954.1:p.Ala272Thr
Search 100 bp 5'
Search 100 bp 3'