Canonical Allele Identifier: CA10610263

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297370
• ClinVar RCV Id: RCV000264585 ; RCV000356997
• dbSNP Id: rs748209315
• gnomAD v2: 1-43392125-T-A
• gnomAD v3: 1-42926454-T-A
• gnomAD v4: 1-42926454-T-A
• MyVariant Identifiers: chr1:g.43392125T>A (hg19) ; chr1:g.42926454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926454T>A , CM000663.2:g.42926454T>A	GRCh38
NC_000001.10:g.43392125T>A , CM000663.1:g.43392125T>A	GRCh37
NC_000001.9:g.43164712T>A	NCBI36
NG_008232.1:g.37723A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*587A>T MANE Select	ENSP00000416293.2:n.*587A>T
ENST00000674545.1:n.2683A>T
ENST00000674765.1:c.*353A>T	ENSP00000501811.1:n.*353A>T
ENST00000675112.1:n.2367A>T
ENST00000676254.1:n.2515A>T
ENST00000426263.7:c.*587A>T	ENSP00000416293.2:n.*587A>T
ENST00000630287.2:c.*1381A>T	ENSP00000486694.1:n.*1381A>T
NM_006516.2:c.*587A>T	NP_006507.2:n.*587A>T
NM_006516.3:c.*587A>T	NP_006507.2:n.*587A>T
NM_006516.4:c.*587A>T MANE Select	NP_006507.2:n.*587A>T