Canonical Allele Identifier: CA899196
Gene: SLC35D1 HGNC NCBI

Linked Data

dbSNP Id: rs557935512
gnomAD v2: 1-67519649-G-T
gnomAD v3: 1-67053966-G-T
gnomAD v4: 1-67053966-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053966G>T , CM000663.2:g.67053966G>T GRCh38
NC_000001.10:g.67519649G>T , CM000663.1:g.67519649G>T GRCh37
NC_000001.9:g.67292237G>T NCBI36
NG_012933.1:g.5432C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.48C>A MANE Select ENSP00000235345.5:p.Ala16=
ENST00000235345.5:c.48C>A ENSP00000235345.5:p.Ala16=
NM_015139.2:c.48C>A NP_055954.1:p.Ala16=
XM_006710478.1:c.48C>A XP_006710541.1:p.Ala16=
XM_011541070.1:c.48C>A XP_011539372.1:p.Ala16=
XM_006710478.2:c.48C>A XP_006710541.1:p.Ala16=
XM_011541070.2:c.48C>A XP_011539372.1:p.Ala16=
XR_001737057.2:n.458C>A
XR_001737058.2:n.451C>A
NM_015139.3:c.48C>A MANE Select NP_055954.1:p.Ala16=