Canonical Allele Identifier: CA24011388

Gene: SLC35D1

Linked Data

• dbSNP Id: rs868172430
• gnomAD v2: 1-67519656-C-T
• gnomAD v4: 1-67053973-C-T
• MyVariant Identifiers: chr1:g.67519656C>T (hg19) ; chr1:g.67053973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053973C>T , CM000663.2:g.67053973C>T	GRCh38
NC_000001.10:g.67519656C>T , CM000663.1:g.67519656C>T	GRCh37
NC_000001.9:g.67292244C>T	NCBI36
NG_012933.1:g.5425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.41G>A MANE Select	ENSP00000235345.5:p.Gly14Glu
ENST00000235345.5:c.41G>A	ENSP00000235345.5:p.Gly14Glu
NM_015139.2:c.41G>A	NP_055954.1:p.Gly14Glu
XM_006710478.1:c.41G>A	XP_006710541.1:p.Gly14Glu
XM_011541070.1:c.41G>A	XP_011539372.1:p.Gly14Glu
XM_006710478.2:c.41G>A	XP_006710541.1:p.Gly14Glu
XM_011541070.2:c.41G>A	XP_011539372.1:p.Gly14Glu
XR_001737057.2:n.451G>A
XR_001737058.2:n.444G>A
NM_015139.3:c.41G>A MANE Select	NP_055954.1:p.Gly14Glu