Canonical Allele Identifier: CA339958750

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1557646134
• gnomAD v4: 1-42930005-T-C
• MyVariant Identifiers: chr1:g.43395676T>C (hg19) ; chr1:g.42930005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930005T>C , CM000663.2:g.42930005T>C	GRCh38
NC_000001.10:g.43395676T>C , CM000663.1:g.43395676T>C	GRCh37
NC_000001.9:g.43168263T>C	NCBI36
NG_008232.1:g.34172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.547A>G MANE Select	ENSP00000416293.2:p.Lys183Glu
ENST00000674765.1:c.547A>G	ENSP00000501811.1:p.Lys183Glu
ENST00000675112.1:n.570A>G
ENST00000676254.1:n.996A>G
ENST00000426263.7:c.547A>G	ENSP00000416293.2:p.Lys183Glu
ENST00000439722.2:c.426A>G	ENSP00000395521.2:n.426A>G
ENST00000475162.3:c.415+621A>G
ENST00000630287.2:c.517-225A>G	ENSP00000486694.1:n.517-225A>G
NM_006516.2:c.547A>G	NP_006507.2:p.Lys183Glu
NM_006516.3:c.547A>G	NP_006507.2:p.Lys183Glu
NM_006516.4:c.547A>G MANE Select	NP_006507.2:p.Lys183Glu