Canonical Allele Identifier: CA899148

Gene: SLC35D1

Linked Data

• ClinVar Variation Id: 1619841
• ClinVar RCV Id: RCV002089153
• dbSNP Id: rs200679737
• ExAC: 1:67519482 C / A
• gnomAD v2: 1-67519482-C-A
• gnomAD v3: 1-67053799-C-A
• gnomAD v4: 1-67053799-C-A
• MyVariant Identifiers: chr1:g.67519482C>A (hg19) ; chr1:g.67053799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053799C>A , CM000663.2:g.67053799C>A	GRCh38
NC_000001.10:g.67519482C>A , CM000663.1:g.67519482C>A	GRCh37
NC_000001.9:g.67292070C>A	NCBI36
NG_012933.1:g.5599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.203+12G>T MANE Select	ENSP00000235345.5:n.203+12G>T
ENST00000235345.5:c.203+12G>T	ENSP00000235345.5:n.203+12G>T
NM_015139.2:c.203+12G>T	NP_055954.1:n.203+12G>T
XM_006710478.1:c.203+12G>T	XP_006710541.1:n.203+12G>T
XM_011541070.1:c.203+12G>T	XP_011539372.1:n.203+12G>T
XM_006710478.2:c.203+12G>T	XP_006710541.1:n.203+12G>T
XM_011541070.2:c.203+12G>T	XP_011539372.1:n.203+12G>T
XR_001737057.2:n.613+12G>T
XR_001737058.2:n.606+12G>T
NM_015139.3:c.203+12G>T MANE Select	NP_055954.1:n.203+12G>T