Canonical Allele Identifier: CA2645199030

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929543-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929543T>C , CM000663.2:g.42929543T>C	GRCh38
NC_000001.10:g.43395214T>C , CM000663.1:g.43395214T>C	GRCh37
NC_000001.9:g.43167801T>C	NCBI36
NG_008232.1:g.34634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+50A>G MANE Select	ENSP00000416293.2:n.867+50A>G
ENST00000674765.1:c.867+50A>G	ENSP00000501811.1:n.867+50A>G
ENST00000675112.1:n.940A>G
ENST00000676254.1:n.1316+50A>G
ENST00000426263.7:c.867+50A>G	ENSP00000416293.2:n.867+50A>G
ENST00000439722.2:c.746+50A>G	ENSP00000395521.2:n.746+50A>G
ENST00000475162.3:c.415+1083A>G
ENST00000630287.2:c.*182+50A>G	ENSP00000486694.1:n.*182+50A>G
NM_006516.2:c.867+50A>G	NP_006507.2:n.867+50A>G
NM_006516.3:c.867+50A>G	NP_006507.2:n.867+50A>G
NM_006516.4:c.867+50A>G MANE Select	NP_006507.2:n.867+50A>G