Canonical Allele Identifier: CA114776
Gene: SLC35D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1124
ClinVar RCV Id: RCV000001183
dbSNP Id: rs137853111
ExAC: 1:67474795 C / T
gnomAD v2: 1-67474795-C-T
gnomAD v3: 1-67009112-C-T
gnomAD v4: 1-67009112-C-T
MyVariant Identifiers: chr1:g.67474795C>T (hg19) chr1:g.67009112C>T (hg38)
PubMed: PMID:17952091
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67009112C>T , CM000663.2:g.67009112C>T GRCh38
NC_000001.10:g.67474795C>T , CM000663.1:g.67474795C>T GRCh37
NC_000001.9:g.67247383C>T NCBI36
NG_012933.1:g.50286G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000235345.6:c.932G>A MANE Select ENSP00000235345.5:p.Trp311Ter
ENST00000235345.5:c.932G>A ENSP00000235345.5:p.Trp311Ter
NM_015139.2:c.932G>A NP_055954.1:p.Trp311Ter
XM_006710478.1:c.1013G>A XP_006710541.1:p.Trp338Ter
XM_011541070.1:c.1013G>A XP_011539372.1:p.Trp338Ter
XM_006710478.2:c.1013G>A XP_006710541.1:p.Trp338Ter
XM_011541070.2:c.1013G>A XP_011539372.1:p.Trp338Ter
XR_001737057.2:n.1516G>A
XR_001737058.2:n.2301G>A
NM_015139.3:c.932G>A MANE Select NP_055954.1:p.Trp311Ter
Search 100 bp 5'
Search 100 bp 3'