Canonical Allele Identifier: CA522499542

Gene: SLC2A1

Linked Data

• dbSNP Id: rs977180564
• gnomAD v2: 1-43409193-C-G
• MyVariant Identifiers: chr1:g.43409193C>G (hg19) ; chr1:g.42943522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943522C>G , CM000663.2:g.42943522C>G	GRCh38
NC_000001.10:g.43409193C>G , CM000663.1:g.43409193C>G	GRCh37
NC_000001.9:g.43181780C>G	NCBI36
NG_008232.1:g.20655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.19-201G>C MANE Select	ENSP00000416293.2:n.19-201G>C
ENST00000674765.1:c.19-201G>C	ENSP00000501811.1:n.19-201G>C
ENST00000675112.1:n.42-201G>C
ENST00000372500.4:c.19-12316G>C	ENSP00000361578.4:n.19-12316G>C
ENST00000415851.6:n.236-201G>C
ENST00000426263.7:c.19-201G>C	ENSP00000416293.2:n.19-201G>C
ENST00000625233.2:n.227-201G>C
ENST00000628173.1:n.238-201G>C
ENST00000630287.2:c.19-201G>C	ENSP00000486694.1:n.19-201G>C
ENST00000630821.1:n.236-201G>C
NM_006516.2:c.19-201G>C	NP_006507.2:n.19-201G>C
NM_006516.3:c.19-201G>C	NP_006507.2:n.19-201G>C
NM_006516.4:c.19-201G>C MANE Select	NP_006507.2:n.19-201G>C