Canonical Allele Identifier: CA21256383

Gene: SLC2A1

Linked Data

• dbSNP Id: rs536985109
• gnomAD v2: 1-43402620-A-T
• gnomAD v3: 1-42936949-A-T
• gnomAD v4: 1-42936949-A-T
• MyVariant Identifiers: chr1:g.43402620A>T (hg19) ; chr1:g.42936949A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42936949A>T , CM000663.2:g.42936949A>T	GRCh38
NC_000001.10:g.43402620A>T , CM000663.1:g.43402620A>T	GRCh37
NC_000001.9:g.43175207A>T	NCBI36
NG_008232.1:g.27228T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.115-5743T>A MANE Select	ENSP00000416293.2:n.115-5743T>A
ENST00000674765.1:c.115-5743T>A	ENSP00000501811.1:n.115-5743T>A
ENST00000675112.1:n.138-5743T>A
ENST00000372500.4:c.19-5743T>A	ENSP00000361578.4:n.19-5743T>A
ENST00000415851.6:n.332-5743T>A
ENST00000426263.7:c.115-5743T>A	ENSP00000416293.2:n.115-5743T>A
ENST00000475162.3:c.14-5743T>A
ENST00000625233.2:n.323-5743T>A
ENST00000628173.1:n.460+2874T>A
ENST00000630287.2:c.115-5743T>A	ENSP00000486694.1:n.115-5743T>A
NM_006516.2:c.115-5743T>A	NP_006507.2:n.115-5743T>A
NM_006516.3:c.115-5743T>A	NP_006507.2:n.115-5743T>A
NM_006516.4:c.115-5743T>A MANE Select	NP_006507.2:n.115-5743T>A