Canonical Allele Identifier: CA523753439

Gene: SLC35D1

Linked Data

• dbSNP Id: rs1347456223
• gnomAD v2: 1-67519480-C-T
• gnomAD v4: 1-67053797-C-T
• MyVariant Identifiers: chr1:g.67519480C>T (hg19) ; chr1:g.67053797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053797C>T , CM000663.2:g.67053797C>T	GRCh38
NC_000001.10:g.67519480C>T , CM000663.1:g.67519480C>T	GRCh37
NC_000001.9:g.67292068C>T	NCBI36
NG_012933.1:g.5601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.203+14G>A MANE Select	ENSP00000235345.5:n.203+14G>A
ENST00000235345.5:c.203+14G>A	ENSP00000235345.5:n.203+14G>A
NM_015139.2:c.203+14G>A	NP_055954.1:n.203+14G>A
XM_006710478.1:c.203+14G>A	XP_006710541.1:n.203+14G>A
XM_011541070.1:c.203+14G>A	XP_011539372.1:n.203+14G>A
XM_006710478.2:c.203+14G>A	XP_006710541.1:n.203+14G>A
XM_011541070.2:c.203+14G>A	XP_011539372.1:n.203+14G>A
XR_001737057.2:n.613+14G>A
XR_001737058.2:n.606+14G>A
NM_015139.3:c.203+14G>A MANE Select	NP_055954.1:n.203+14G>A