Canonical Allele Identifier: CA340708575
Gene: SLC35D1 HGNC NCBI

Linked Data

dbSNP Id: rs1214169038
gnomAD v3: 1-67053893-G-C
gnomAD v4: 1-67053893-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053893G>C , CM000663.2:g.67053893G>C GRCh38
NC_000001.10:g.67519576G>C , CM000663.1:g.67519576G>C GRCh37
NC_000001.9:g.67292164G>C NCBI36
NG_012933.1:g.5505C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.121C>G MANE Select ENSP00000235345.5:p.Leu41Val
ENST00000235345.5:c.121C>G ENSP00000235345.5:p.Leu41Val
NM_015139.2:c.121C>G NP_055954.1:p.Leu41Val
XM_006710478.1:c.121C>G XP_006710541.1:p.Leu41Val
XM_011541070.1:c.121C>G XP_011539372.1:p.Leu41Val
XM_006710478.2:c.121C>G XP_006710541.1:p.Leu41Val
XM_011541070.2:c.121C>G XP_011539372.1:p.Leu41Val
XR_001737057.2:n.531C>G
XR_001737058.2:n.524C>G
NM_015139.3:c.121C>G MANE Select NP_055954.1:p.Leu41Val