Canonical Allele Identifier: CA899189

Gene: SLC35D1

Linked Data

• dbSNP Id: rs769445266
• ExAC: 1:67519638 G / A
• gnomAD v2: 1-67519638-G-A
• gnomAD v4: 1-67053955-G-A
• MyVariant Identifiers: chr1:g.67519638G>A (hg19) ; chr1:g.67053955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053955G>A , CM000663.2:g.67053955G>A	GRCh38
NC_000001.10:g.67519638G>A , CM000663.1:g.67519638G>A	GRCh37
NC_000001.9:g.67292226G>A	NCBI36
NG_012933.1:g.5443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.59C>T MANE Select	ENSP00000235345.5:p.Ser20Phe
ENST00000235345.5:c.59C>T	ENSP00000235345.5:p.Ser20Phe
NM_015139.2:c.59C>T	NP_055954.1:p.Ser20Phe
XM_006710478.1:c.59C>T	XP_006710541.1:p.Ser20Phe
XM_011541070.1:c.59C>T	XP_011539372.1:p.Ser20Phe
XM_006710478.2:c.59C>T	XP_006710541.1:p.Ser20Phe
XM_011541070.2:c.59C>T	XP_011539372.1:p.Ser20Phe
XR_001737057.2:n.469C>T
XR_001737058.2:n.462C>T
NM_015139.3:c.59C>T MANE Select	NP_055954.1:p.Ser20Phe