Canonical Allele Identifier: CA340708675

Gene: SLC35D1

Linked Data

• gnomAD v4: 1-67053943-C-T
• COSMIC: COSM4899680
• MyVariant Identifiers: chr1:g.67519626C>T (hg19) ; chr1:g.67053943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053943C>T , CM000663.2:g.67053943C>T	GRCh38
NC_000001.10:g.67519626C>T , CM000663.1:g.67519626C>T	GRCh37
NC_000001.9:g.67292214C>T	NCBI36
NG_012933.1:g.5455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.71G>A MANE Select	ENSP00000235345.5:p.Arg24Gln
ENST00000235345.5:c.71G>A	ENSP00000235345.5:p.Arg24Gln
NM_015139.2:c.71G>A	NP_055954.1:p.Arg24Gln
XM_006710478.1:c.71G>A	XP_006710541.1:p.Arg24Gln
XM_011541070.1:c.71G>A	XP_011539372.1:p.Arg24Gln
XM_006710478.2:c.71G>A	XP_006710541.1:p.Arg24Gln
XM_011541070.2:c.71G>A	XP_011539372.1:p.Arg24Gln
XR_001737057.2:n.481G>A
XR_001737058.2:n.474G>A
NM_015139.3:c.71G>A MANE Select	NP_055954.1:p.Arg24Gln