Canonical Allele Identifier: CA24005533

Gene: SLC35D1

Linked Data

• dbSNP Id: rs945546486
• gnomAD v4: 1-67009108-T-C
• MyVariant Identifiers: chr1:g.67474791T>C (hg19) ; chr1:g.67009108T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67009108T>C , CM000663.2:g.67009108T>C	GRCh38
NC_000001.10:g.67474791T>C , CM000663.1:g.67474791T>C	GRCh37
NC_000001.9:g.67247379T>C	NCBI36
NG_012933.1:g.50290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.936A>G MANE Select	ENSP00000235345.5:p.Thr312=
ENST00000235345.5:c.936A>G	ENSP00000235345.5:p.Thr312=
NM_015139.2:c.936A>G	NP_055954.1:p.Thr312=
XM_006710478.1:c.1017A>G	XP_006710541.1:p.Thr339=
XM_011541070.1:c.1017A>G	XP_011539372.1:p.Thr339=
XM_006710478.2:c.1017A>G	XP_006710541.1:p.Thr339=
XM_011541070.2:c.1017A>G	XP_011539372.1:p.Thr339=
XR_001737057.2:n.1520A>G
XR_001737058.2:n.2305A>G
NM_015139.3:c.936A>G MANE Select	NP_055954.1:p.Thr312=