Canonical Allele Identifier: CA418232925

Gene: SLC35D1

Linked Data

• ClinVar Variation Id: 2143989
• ClinVar RCV Id: RCV003053222
• gnomAD v4: 1-67009117-G-A
• MyVariant Identifiers: chr1:g.67474800G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67009117G>A , CM000663.2:g.67009117G>A	GRCh38
NC_000001.10:g.67474800G>A , CM000663.1:g.67474800G>A	GRCh37
NC_000001.9:g.67247388G>A	NCBI36
NG_012933.1:g.50281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.927C>T MANE Select	ENSP00000235345.5:p.Phe309=
ENST00000235345.5:c.927C>T	ENSP00000235345.5:p.Phe309=
NM_015139.2:c.927C>T	NP_055954.1:p.Phe309=
XM_006710478.1:c.1008C>T	XP_006710541.1:p.Phe336=
XM_011541070.1:c.1008C>T	XP_011539372.1:p.Phe336=
XM_006710478.2:c.1008C>T	XP_006710541.1:p.Phe336=
XM_011541070.2:c.1008C>T	XP_011539372.1:p.Phe336=
XR_001737057.2:n.1511C>T
XR_001737058.2:n.2296C>T
NM_015139.3:c.927C>T MANE Select	NP_055954.1:p.Phe309=