Canonical Allele Identifier: CA340708773
Gene: SLC35D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1488552
ClinVar RCV Id: RCV001988642
dbSNP Id: rs1222758290
gnomAD v2: 1-67519677-C-A
gnomAD v4: 1-67053994-C-A
MyVariant Identifiers: chr1:g.67519677C>A (hg19) chr1:g.67053994C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053994C>A , CM000663.2:g.67053994C>A GRCh38
NC_000001.10:g.67519677C>A , CM000663.1:g.67519677C>A GRCh37
NC_000001.9:g.67292265C>A NCBI36
NG_012933.1:g.5404G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.20G>T MANE Select ENSP00000235345.5:p.Arg7Leu
ENST00000235345.5:c.20G>T ENSP00000235345.5:p.Arg7Leu
NM_015139.2:c.20G>T NP_055954.1:p.Arg7Leu
XM_006710478.1:c.20G>T XP_006710541.1:p.Arg7Leu
XM_011541070.1:c.20G>T XP_011539372.1:p.Arg7Leu
XM_006710478.2:c.20G>T XP_006710541.1:p.Arg7Leu
XM_011541070.2:c.20G>T XP_011539372.1:p.Arg7Leu
XR_001737057.2:n.430G>T
XR_001737058.2:n.423G>T
NM_015139.3:c.20G>T MANE Select NP_055954.1:p.Arg7Leu
Search 100 bp 5'
Search 100 bp 3'