Canonical Allele Identifier: CA339954307
Gene: SLC2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927778T>G , CM000663.2:g.42927778T>G GRCh38
NC_000001.10:g.43393449T>G , CM000663.1:g.43393449T>G GRCh37
NC_000001.9:g.43166036T>G NCBI36
NG_008232.1:g.36399A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1105A>C MANE Select ENSP00000416293.2:p.Ile369Leu
ENST00000674545.1:n.1722A>C
ENST00000674765.1:c.1030-921A>C ENSP00000501811.1:n.1030-921A>C
ENST00000675112.1:n.1406A>C
ENST00000676254.1:n.1554A>C
ENST00000426263.7:c.1105A>C ENSP00000416293.2:p.Ile369Leu
ENST00000475162.3:c.416-800A>C
ENST00000630287.2:c.*420A>C ENSP00000486694.1:n.*420A>C
NM_006516.2:c.1105A>C NP_006507.2:p.Ile369Leu
NM_006516.3:c.1105A>C NP_006507.2:p.Ile369Leu
NM_006516.4:c.1105A>C MANE Select NP_006507.2:p.Ile369Leu