Canonical Allele Identifier: CA21249354

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1052270466
• MyVariant Identifiers: chr1:g.43393546A>C (hg19) ; chr1:g.42927875A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927875A>C , CM000663.2:g.42927875A>C	GRCh38
NC_000001.10:g.43393546A>C , CM000663.1:g.43393546A>C	GRCh37
NC_000001.9:g.43166133A>C	NCBI36
NG_008232.1:g.36302T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-67T>G MANE Select	ENSP00000416293.2:n.1075-67T>G
ENST00000674545.1:n.1625T>G
ENST00000674765.1:c.1030-1018T>G	ENSP00000501811.1:n.1030-1018T>G
ENST00000675112.1:n.1376-67T>G
ENST00000676254.1:n.1524-67T>G
ENST00000426263.7:c.1075-67T>G	ENSP00000416293.2:n.1075-67T>G
ENST00000475162.3:c.416-897T>G
ENST00000630287.2:c.*390-67T>G	ENSP00000486694.1:n.*390-67T>G
NM_006516.2:c.1075-67T>G	NP_006507.2:n.1075-67T>G
NM_006516.3:c.1075-67T>G	NP_006507.2:n.1075-67T>G
NM_006516.4:c.1075-67T>G MANE Select	NP_006507.2:n.1075-67T>G