Canonical Allele Identifier: CA340708787

Gene: SLC35D1

Linked Data

• gnomAD v4: 1-67054000-T-C
• MyVariant Identifiers: chr1:g.67519683T>C (hg19) ; chr1:g.67054000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67054000T>C , CM000663.2:g.67054000T>C	GRCh38
NC_000001.10:g.67519683T>C , CM000663.1:g.67519683T>C	GRCh37
NC_000001.9:g.67292271T>C	NCBI36
NG_012933.1:g.5398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.14A>G MANE Select	ENSP00000235345.5:p.His5Arg
ENST00000235345.5:c.14A>G	ENSP00000235345.5:p.His5Arg
NM_015139.2:c.14A>G	NP_055954.1:p.His5Arg
XM_006710478.1:c.14A>G	XP_006710541.1:p.His5Arg
XM_011541070.1:c.14A>G	XP_011539372.1:p.His5Arg
XM_006710478.2:c.14A>G	XP_006710541.1:p.His5Arg
XM_011541070.2:c.14A>G	XP_011539372.1:p.His5Arg
XR_001737057.2:n.424A>G
XR_001737058.2:n.417A>G
NM_015139.3:c.14A>G MANE Select	NP_055954.1:p.His5Arg