Canonical Allele Identifier: CA340708767

Gene: SLC35D1

Linked Data

• gnomAD v4: 1-67053991-T-A
• MyVariant Identifiers: chr1:g.67519674T>A (hg19) ; chr1:g.67053991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053991T>A , CM000663.2:g.67053991T>A	GRCh38
NC_000001.10:g.67519674T>A , CM000663.1:g.67519674T>A	GRCh37
NC_000001.9:g.67292262T>A	NCBI36
NG_012933.1:g.5407A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.23A>T MANE Select	ENSP00000235345.5:p.Gln8Leu
ENST00000235345.5:c.23A>T	ENSP00000235345.5:p.Gln8Leu
NM_015139.2:c.23A>T	NP_055954.1:p.Gln8Leu
XM_006710478.1:c.23A>T	XP_006710541.1:p.Gln8Leu
XM_011541070.1:c.23A>T	XP_011539372.1:p.Gln8Leu
XM_006710478.2:c.23A>T	XP_006710541.1:p.Gln8Leu
XM_011541070.2:c.23A>T	XP_011539372.1:p.Gln8Leu
XR_001737057.2:n.433A>T
XR_001737058.2:n.426A>T
NM_015139.3:c.23A>T MANE Select	NP_055954.1:p.Gln8Leu