Canonical Allele Identifier: CA899192
Gene: SLC35D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2166967
ClinVar RCV Id: RCV003098914
dbSNP Id: rs373050297
ExAC: 1:67519646 G / T
gnomAD v2: 1-67519646-G-T
gnomAD v3: 1-67053963-G-T
gnomAD v4: 1-67053963-G-T
MyVariant Identifiers: chr1:g.67519646G>T (hg19) chr1:g.67053963G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053963G>T , CM000663.2:g.67053963G>T GRCh38
NC_000001.10:g.67519646G>T , CM000663.1:g.67519646G>T GRCh37
NC_000001.9:g.67292234G>T NCBI36
NG_012933.1:g.5435C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.51C>A MANE Select ENSP00000235345.5:p.Pro17=
ENST00000235345.5:c.51C>A ENSP00000235345.5:p.Pro17=
NM_015139.2:c.51C>A NP_055954.1:p.Pro17=
XM_006710478.1:c.51C>A XP_006710541.1:p.Pro17=
XM_011541070.1:c.51C>A XP_011539372.1:p.Pro17=
XM_006710478.2:c.51C>A XP_006710541.1:p.Pro17=
XM_011541070.2:c.51C>A XP_011539372.1:p.Pro17=
XR_001737057.2:n.461C>A
XR_001737058.2:n.454C>A
NM_015139.3:c.51C>A MANE Select NP_055954.1:p.Pro17=
Search 100 bp 5'
Search 100 bp 3'