Canonical Allele Identifier: CA340708524

Gene: SLC35D1

Linked Data

• gnomAD v4: 1-67053867-G-T
• MyVariant Identifiers: chr1:g.67519550G>T (hg19) ; chr1:g.67053867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053867G>T , CM000663.2:g.67053867G>T	GRCh38
NC_000001.10:g.67519550G>T , CM000663.1:g.67519550G>T	GRCh37
NC_000001.9:g.67292138G>T	NCBI36
NG_012933.1:g.5531C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.147C>A MANE Select	ENSP00000235345.5:p.Tyr49Ter
ENST00000235345.5:c.147C>A	ENSP00000235345.5:p.Tyr49Ter
NM_015139.2:c.147C>A	NP_055954.1:p.Tyr49Ter
XM_006710478.1:c.147C>A	XP_006710541.1:p.Tyr49Ter
XM_011541070.1:c.147C>A	XP_011539372.1:p.Tyr49Ter
XM_006710478.2:c.147C>A	XP_006710541.1:p.Tyr49Ter
XM_011541070.2:c.147C>A	XP_011539372.1:p.Tyr49Ter
XR_001737057.2:n.557C>A
XR_001737058.2:n.550C>A
NM_015139.3:c.147C>A MANE Select	NP_055954.1:p.Tyr49Ter