Canonical Allele Identifier: CA418437418

Gene: SLC35D1

Linked Data

• dbSNP Id: rs201982159
• gnomAD v4: 1-67053960-C-G
• MyVariant Identifiers: chr1:g.67519643C>G (hg19) ; chr1:g.67053960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053960C>G , CM000663.2:g.67053960C>G	GRCh38
NC_000001.10:g.67519643C>G , CM000663.1:g.67519643C>G	GRCh37
NC_000001.9:g.67292231C>G	NCBI36
NG_012933.1:g.5438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.54G>C MANE Select	ENSP00000235345.5:p.Ala18=
ENST00000235345.5:c.54G>C	ENSP00000235345.5:p.Ala18=
NM_015139.2:c.54G>C	NP_055954.1:p.Ala18=
XM_006710478.1:c.54G>C	XP_006710541.1:p.Ala18=
XM_011541070.1:c.54G>C	XP_011539372.1:p.Ala18=
XM_006710478.2:c.54G>C	XP_006710541.1:p.Ala18=
XM_011541070.2:c.54G>C	XP_011539372.1:p.Ala18=
XR_001737057.2:n.464G>C
XR_001737058.2:n.457G>C
NM_015139.3:c.54G>C MANE Select	NP_055954.1:p.Ala18=