Canonical Allele Identifier: CA2645199356
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42943162-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42943162G>T , CM000663.2:g.42943162G>T GRCh38
NC_000001.10:g.43408833G>T , CM000663.1:g.43408833G>T GRCh37
NC_000001.9:g.43181420G>T NCBI36
NG_008232.1:g.21015C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.114+64C>A MANE Select ENSP00000416293.2:n.114+64C>A
ENST00000674765.1:c.114+64C>A ENSP00000501811.1:n.114+64C>A
ENST00000675112.1:n.137+64C>A
ENST00000372500.4:c.19-11956C>A ENSP00000361578.4:n.19-11956C>A
ENST00000415851.6:n.331+64C>A
ENST00000426263.7:c.114+64C>A ENSP00000416293.2:n.114+64C>A
ENST00000475162.3:c.13+64C>A
ENST00000625233.2:n.322+64C>A
ENST00000628173.1:n.333+64C>A
ENST00000630287.2:c.114+64C>A ENSP00000486694.1:n.114+64C>A
ENST00000630821.1:n.395C>A
NM_006516.2:c.114+64C>A NP_006507.2:n.114+64C>A
NM_006516.3:c.114+64C>A NP_006507.2:n.114+64C>A
NM_006516.4:c.114+64C>A MANE Select NP_006507.2:n.114+64C>A