Canonical Allele Identifier: CA522805067

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1329858256
• gnomAD v2: 1-43393515-T-G
• gnomAD v4: 1-42927844-T-G
• MyVariant Identifiers: chr1:g.43393515T>G (hg19) ; chr1:g.42927844T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927844T>G , CM000663.2:g.42927844T>G	GRCh38
NC_000001.10:g.43393515T>G , CM000663.1:g.43393515T>G	GRCh37
NC_000001.9:g.43166102T>G	NCBI36
NG_008232.1:g.36333A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-36A>C MANE Select	ENSP00000416293.2:n.1075-36A>C
ENST00000674545.1:n.1656A>C
ENST00000674765.1:c.1030-987A>C	ENSP00000501811.1:n.1030-987A>C
ENST00000675112.1:n.1376-36A>C
ENST00000676254.1:n.1524-36A>C
ENST00000426263.7:c.1075-36A>C	ENSP00000416293.2:n.1075-36A>C
ENST00000475162.3:c.416-866A>C
ENST00000630287.2:c.*390-36A>C	ENSP00000486694.1:n.*390-36A>C
NM_006516.2:c.1075-36A>C	NP_006507.2:n.1075-36A>C
NM_006516.3:c.1075-36A>C	NP_006507.2:n.1075-36A>C
NM_006516.4:c.1075-36A>C MANE Select	NP_006507.2:n.1075-36A>C