Canonical Allele Identifier: CA24011355

Gene: SLC35D1

Linked Data

• dbSNP Id: rs373050297
• gnomAD v2: 1-67519646-G-A
• gnomAD v3: 1-67053963-G-A
• gnomAD v4: 1-67053963-G-A
• MyVariant Identifiers: chr1:g.67519646G>A (hg19) ; chr1:g.67053963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053963G>A , CM000663.2:g.67053963G>A	GRCh38
NC_000001.10:g.67519646G>A , CM000663.1:g.67519646G>A	GRCh37
NC_000001.9:g.67292234G>A	NCBI36
NG_012933.1:g.5435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.51C>T MANE Select	ENSP00000235345.5:p.Pro17=
ENST00000235345.5:c.51C>T	ENSP00000235345.5:p.Pro17=
NM_015139.2:c.51C>T	NP_055954.1:p.Pro17=
XM_006710478.1:c.51C>T	XP_006710541.1:p.Pro17=
XM_011541070.1:c.51C>T	XP_011539372.1:p.Pro17=
XM_006710478.2:c.51C>T	XP_006710541.1:p.Pro17=
XM_011541070.2:c.51C>T	XP_011539372.1:p.Pro17=
XR_001737057.2:n.461C>T
XR_001737058.2:n.454C>T
NM_015139.3:c.51C>T MANE Select	NP_055954.1:p.Pro17=