Canonical Allele Identifier: CA340708573

Gene: SLC35D1

Linked Data

• dbSNP Id: rs1360162542
• gnomAD v2: 1-67519575-A-G
• gnomAD v3: 1-67053892-A-G
• gnomAD v4: 1-67053892-A-G
• MyVariant Identifiers: chr1:g.67519575A>G (hg19) ; chr1:g.67053892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053892A>G , CM000663.2:g.67053892A>G	GRCh38
NC_000001.10:g.67519575A>G , CM000663.1:g.67519575A>G	GRCh37
NC_000001.9:g.67292163A>G	NCBI36
NG_012933.1:g.5506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.122T>C MANE Select	ENSP00000235345.5:p.Leu41Pro
ENST00000235345.5:c.122T>C	ENSP00000235345.5:p.Leu41Pro
NM_015139.2:c.122T>C	NP_055954.1:p.Leu41Pro
XM_006710478.1:c.122T>C	XP_006710541.1:p.Leu41Pro
XM_011541070.1:c.122T>C	XP_011539372.1:p.Leu41Pro
XM_006710478.2:c.122T>C	XP_006710541.1:p.Leu41Pro
XM_011541070.2:c.122T>C	XP_011539372.1:p.Leu41Pro
XR_001737057.2:n.532T>C
XR_001737058.2:n.525T>C
NM_015139.3:c.122T>C MANE Select	NP_055954.1:p.Leu41Pro