Canonical Allele Identifier: CA1165411603

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643444607
• gnomAD v4: 1-42927863-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927863A>T , CM000663.2:g.42927863A>T	GRCh38
NC_000001.10:g.43393534A>T , CM000663.1:g.43393534A>T	GRCh37
NC_000001.9:g.43166121A>T	NCBI36
NG_008232.1:g.36314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-55T>A MANE Select	ENSP00000416293.2:n.1075-55T>A
ENST00000674545.1:n.1637T>A
ENST00000674765.1:c.1030-1006T>A	ENSP00000501811.1:n.1030-1006T>A
ENST00000675112.1:n.1376-55T>A
ENST00000676254.1:n.1524-55T>A
ENST00000426263.7:c.1075-55T>A	ENSP00000416293.2:n.1075-55T>A
ENST00000475162.3:c.416-885T>A
ENST00000630287.2:c.*390-55T>A	ENSP00000486694.1:n.*390-55T>A
NM_006516.2:c.1075-55T>A	NP_006507.2:n.1075-55T>A
NM_006516.3:c.1075-55T>A	NP_006507.2:n.1075-55T>A
NM_006516.4:c.1075-55T>A MANE Select	NP_006507.2:n.1075-55T>A