Canonical Allele Identifier: CA24011394
Gene: SLC35D1 HGNC NCBI

Linked Data

dbSNP Id: rs1006572819
gnomAD v2: 1-67519665-C-T
gnomAD v3: 1-67053982-C-T
gnomAD v4: 1-67053982-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053982C>T , CM000663.2:g.67053982C>T GRCh38
NC_000001.10:g.67519665C>T , CM000663.1:g.67519665C>T GRCh37
NC_000001.9:g.67292253C>T NCBI36
NG_012933.1:g.5416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.32G>A MANE Select ENSP00000235345.5:p.Arg11Gln
ENST00000235345.5:c.32G>A ENSP00000235345.5:p.Arg11Gln
NM_015139.2:c.32G>A NP_055954.1:p.Arg11Gln
XM_006710478.1:c.32G>A XP_006710541.1:p.Arg11Gln
XM_011541070.1:c.32G>A XP_011539372.1:p.Arg11Gln
XM_006710478.2:c.32G>A XP_006710541.1:p.Arg11Gln
XM_011541070.2:c.32G>A XP_011539372.1:p.Arg11Gln
XR_001737057.2:n.442G>A
XR_001737058.2:n.435G>A
NM_015139.3:c.32G>A MANE Select NP_055954.1:p.Arg11Gln