Canonical Allele Identifier: CA340708749

Gene: SLC35D1

Linked Data

• ClinVar Variation Id: 2492575
• ClinVar RCV Id: RCV003217972
• MyVariant Identifiers: chr1:g.67519665C>G (hg19) ; chr1:g.67053982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053982C>G , CM000663.2:g.67053982C>G	GRCh38
NC_000001.10:g.67519665C>G , CM000663.1:g.67519665C>G	GRCh37
NC_000001.9:g.67292253C>G	NCBI36
NG_012933.1:g.5416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.32G>C MANE Select	ENSP00000235345.5:p.Arg11Pro
ENST00000235345.5:c.32G>C	ENSP00000235345.5:p.Arg11Pro
NM_015139.2:c.32G>C	NP_055954.1:p.Arg11Pro
XM_006710478.1:c.32G>C	XP_006710541.1:p.Arg11Pro
XM_011541070.1:c.32G>C	XP_011539372.1:p.Arg11Pro
XM_006710478.2:c.32G>C	XP_006710541.1:p.Arg11Pro
XM_011541070.2:c.32G>C	XP_011539372.1:p.Arg11Pro
XR_001737057.2:n.442G>C
XR_001737058.2:n.435G>C
NM_015139.3:c.32G>C MANE Select	NP_055954.1:p.Arg11Pro