Canonical Allele Identifier: CA21256367

Gene: SLC2A1

Linked Data

• dbSNP Id: rs143999992
• gnomAD v3: 1-42936941-C-T
• gnomAD v4: 1-42936941-C-T
• MyVariant Identifiers: chr1:g.43402612C>T (hg19) ; chr1:g.42936941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42936941C>T , CM000663.2:g.42936941C>T	GRCh38
NC_000001.10:g.43402612C>T , CM000663.1:g.43402612C>T	GRCh37
NC_000001.9:g.43175199C>T	NCBI36
NG_008232.1:g.27236G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.115-5735G>A MANE Select	ENSP00000416293.2:n.115-5735G>A
ENST00000674765.1:c.115-5735G>A	ENSP00000501811.1:n.115-5735G>A
ENST00000675112.1:n.138-5735G>A
ENST00000372500.4:c.19-5735G>A	ENSP00000361578.4:n.19-5735G>A
ENST00000415851.6:n.332-5735G>A
ENST00000426263.7:c.115-5735G>A	ENSP00000416293.2:n.115-5735G>A
ENST00000475162.3:c.14-5735G>A
ENST00000625233.2:n.323-5735G>A
ENST00000628173.1:n.460+2882G>A
ENST00000630287.2:c.115-5735G>A	ENSP00000486694.1:n.115-5735G>A
NM_006516.2:c.115-5735G>A	NP_006507.2:n.115-5735G>A
NM_006516.3:c.115-5735G>A	NP_006507.2:n.115-5735G>A
NM_006516.4:c.115-5735G>A MANE Select	NP_006507.2:n.115-5735G>A