Canonical Allele Identifier: CA340708719

Gene: SLC35D1

Linked Data

• dbSNP Id: rs1400266033
• gnomAD v2: 1-67519651-C-G
• gnomAD v3: 1-67053968-C-G
• gnomAD v4: 1-67053968-C-G
• MyVariant Identifiers: chr1:g.67519651C>G (hg19) ; chr1:g.67053968C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053968C>G , CM000663.2:g.67053968C>G	GRCh38
NC_000001.10:g.67519651C>G , CM000663.1:g.67519651C>G	GRCh37
NC_000001.9:g.67292239C>G	NCBI36
NG_012933.1:g.5430G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.46G>C MANE Select	ENSP00000235345.5:p.Ala16Pro
ENST00000235345.5:c.46G>C	ENSP00000235345.5:p.Ala16Pro
NM_015139.2:c.46G>C	NP_055954.1:p.Ala16Pro
XM_006710478.1:c.46G>C	XP_006710541.1:p.Ala16Pro
XM_011541070.1:c.46G>C	XP_011539372.1:p.Ala16Pro
XM_006710478.2:c.46G>C	XP_006710541.1:p.Ala16Pro
XM_011541070.2:c.46G>C	XP_011539372.1:p.Ala16Pro
XR_001737057.2:n.456G>C
XR_001737058.2:n.449G>C
NM_015139.3:c.46G>C MANE Select	NP_055954.1:p.Ala16Pro