Canonical Allele Identifier: CA2645198469

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42927856-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927856G>T , CM000663.2:g.42927856G>T	GRCh38
NC_000001.10:g.43393527G>T , CM000663.1:g.43393527G>T	GRCh37
NC_000001.9:g.43166114G>T	NCBI36
NG_008232.1:g.36321C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-48C>A MANE Select	ENSP00000416293.2:n.1075-48C>A
ENST00000674545.1:n.1644C>A
ENST00000674765.1:c.1030-999C>A	ENSP00000501811.1:n.1030-999C>A
ENST00000675112.1:n.1376-48C>A
ENST00000676254.1:n.1524-48C>A
ENST00000426263.7:c.1075-48C>A	ENSP00000416293.2:n.1075-48C>A
ENST00000475162.3:c.416-878C>A
ENST00000630287.2:c.*390-48C>A	ENSP00000486694.1:n.*390-48C>A
NM_006516.2:c.1075-48C>A	NP_006507.2:n.1075-48C>A
NM_006516.3:c.1075-48C>A	NP_006507.2:n.1075-48C>A
NM_006516.4:c.1075-48C>A MANE Select	NP_006507.2:n.1075-48C>A