Canonical Allele Identifier: CA340708820

Gene: SLC35D1

Linked Data

• dbSNP Id: rs757201812
• gnomAD v2: 1-67519690-C-T
• gnomAD v4: 1-67054007-C-T
• MyVariant Identifiers: chr1:g.67519690C>T (hg19) ; chr1:g.67054007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67054007C>T , CM000663.2:g.67054007C>T	GRCh38
NC_000001.10:g.67519690C>T , CM000663.1:g.67519690C>T	GRCh37
NC_000001.9:g.67292278C>T	NCBI36
NG_012933.1:g.5391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.7G>A MANE Select	ENSP00000235345.5:p.Glu3Lys
ENST00000235345.5:c.7G>A	ENSP00000235345.5:p.Glu3Lys
NM_015139.2:c.7G>A	NP_055954.1:p.Glu3Lys
XM_006710478.1:c.7G>A	XP_006710541.1:p.Glu3Lys
XM_011541070.1:c.7G>A	XP_011539372.1:p.Glu3Lys
XM_006710478.2:c.7G>A	XP_006710541.1:p.Glu3Lys
XM_011541070.2:c.7G>A	XP_011539372.1:p.Glu3Lys
XR_001737057.2:n.417G>A
XR_001737058.2:n.410G>A
NM_015139.3:c.7G>A MANE Select	NP_055954.1:p.Glu3Lys