Canonical Allele Identifier: CA114780

Gene: SLC35D1

Linked Data

• ClinVar Variation Id: 1129
• ClinVar RCV Id: RCV000001188
• dbSNP Id: rs267607062
• gnomAD v4: 1-67053821-T-G
• MyVariant Identifiers: chr1:g.67519504T>G (hg19) ; chr1:g.67053821T>G (hg38)
• PubMed: PMID:19508970

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053821T>G , CM000663.2:g.67053821T>G	GRCh38
NC_000001.10:g.67519504T>G , CM000663.1:g.67519504T>G	GRCh37
NC_000001.9:g.67292092T>G	NCBI36
NG_012933.1:g.5577A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000235345.6:c.193A>C MANE Select	ENSP00000235345.5:p.Thr65Pro
ENST00000235345.5:c.193A>C	ENSP00000235345.5:p.Thr65Pro
NM_015139.2:c.193A>C	NP_055954.1:p.Thr65Pro
XM_006710478.1:c.193A>C	XP_006710541.1:p.Thr65Pro
XM_011541070.1:c.193A>C	XP_011539372.1:p.Thr65Pro
XM_006710478.2:c.193A>C	XP_006710541.1:p.Thr65Pro
XM_011541070.2:c.193A>C	XP_011539372.1:p.Thr65Pro
XR_001737057.2:n.603A>C
XR_001737058.2:n.596A>C
NM_015139.3:c.193A>C MANE Select	NP_055954.1:p.Thr65Pro