Canonical Allele Identifier: CA735970123

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1447655431
• gnomAD v4: 1-42929541-C-T
• MyVariant Identifiers: chr1:g.43395212C>T (hg19) ; chr1:g.42929541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929541C>T , CM000663.2:g.42929541C>T	GRCh38
NC_000001.10:g.43395212C>T , CM000663.1:g.43395212C>T	GRCh37
NC_000001.9:g.43167799C>T	NCBI36
NG_008232.1:g.34636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+52G>A MANE Select	ENSP00000416293.2:n.867+52G>A
ENST00000674765.1:c.867+52G>A	ENSP00000501811.1:n.867+52G>A
ENST00000675112.1:n.942G>A
ENST00000676254.1:n.1316+52G>A
ENST00000426263.7:c.867+52G>A	ENSP00000416293.2:n.867+52G>A
ENST00000439722.2:c.746+52G>A	ENSP00000395521.2:n.746+52G>A
ENST00000475162.3:c.415+1085G>A
ENST00000630287.2:c.*182+52G>A	ENSP00000486694.1:n.*182+52G>A
NM_006516.2:c.867+52G>A	NP_006507.2:n.867+52G>A
NM_006516.3:c.867+52G>A	NP_006507.2:n.867+52G>A
NM_006516.4:c.867+52G>A MANE Select	NP_006507.2:n.867+52G>A