Canonical Allele Identifier: CA523753468
Gene: SLC35D1 HGNC NCBI

Linked Data

dbSNP Id: rs1056633371
gnomAD v2: 1-67519740-C-G
gnomAD v3: 1-67054057-C-G
gnomAD v4: 1-67054057-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67054057C>G , CM000663.2:g.67054057C>G GRCh38
NC_000001.10:g.67519740C>G , CM000663.1:g.67519740C>G GRCh37
NC_000001.9:g.67292328C>G NCBI36
NG_012933.1:g.5341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.-44G>C MANE Select ENSP00000235345.5:n.-44G>C
ENST00000235345.5:c.-44G>C ENSP00000235345.5:n.-44G>C
NM_015139.2:c.-44G>C NP_055954.1:n.-44G>C
XM_006710478.1:c.-44G>C XP_006710541.1:n.-44G>C
XM_011541070.1:c.-44G>C XP_011539372.1:n.-44G>C
XM_006710478.2:c.-44G>C XP_006710541.1:n.-44G>C
XM_011541070.2:c.-44G>C XP_011539372.1:n.-44G>C
XR_001737057.2:n.367G>C
XR_001737058.2:n.360G>C
NM_015139.3:c.-44G>C MANE Select NP_055954.1:n.-44G>C