Canonical Allele Identifier: CA340708729
Gene: SLC35D1 HGNC NCBI

Linked Data

dbSNP Id: rs868172430
gnomAD v2: 1-67519656-C-A
gnomAD v3: 1-67053973-C-A
gnomAD v4: 1-67053973-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053973C>A , CM000663.2:g.67053973C>A GRCh38
NC_000001.10:g.67519656C>A , CM000663.1:g.67519656C>A GRCh37
NC_000001.9:g.67292244C>A NCBI36
NG_012933.1:g.5425G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.41G>T MANE Select ENSP00000235345.5:p.Gly14Val
ENST00000235345.5:c.41G>T ENSP00000235345.5:p.Gly14Val
NM_015139.2:c.41G>T NP_055954.1:p.Gly14Val
XM_006710478.1:c.41G>T XP_006710541.1:p.Gly14Val
XM_011541070.1:c.41G>T XP_011539372.1:p.Gly14Val
XM_006710478.2:c.41G>T XP_006710541.1:p.Gly14Val
XM_011541070.2:c.41G>T XP_011539372.1:p.Gly14Val
XR_001737057.2:n.451G>T
XR_001737058.2:n.444G>T
NM_015139.3:c.41G>T MANE Select NP_055954.1:p.Gly14Val