Canonical Allele Identifier: CA21251667

Gene: SLC2A1

Linked Data

• dbSNP Id: rs149672563
• gnomAD v2: 1-43395901-A-G
• gnomAD v3: 1-42930230-A-G
• gnomAD v4: 1-42930230-A-G
• MyVariant Identifiers: chr1:g.43395901A>G (hg19) ; chr1:g.42930230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930230A>G , CM000663.2:g.42930230A>G	GRCh38
NC_000001.10:g.43395901A>G , CM000663.1:g.43395901A>G	GRCh37
NC_000001.9:g.43168488A>G	NCBI36
NG_008232.1:g.33947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-195T>C MANE Select	ENSP00000416293.2:n.517-195T>C
ENST00000674765.1:c.517-195T>C	ENSP00000501811.1:n.517-195T>C
ENST00000675112.1:n.540-195T>C
ENST00000676254.1:n.966-195T>C
ENST00000426263.7:c.517-195T>C	ENSP00000416293.2:n.517-195T>C
ENST00000439722.2:c.396-195T>C	ENSP00000395521.2:n.396-195T>C
ENST00000475162.3:c.415+396T>C
ENST00000630287.2:c.516+396T>C	ENSP00000486694.1:n.516+396T>C
NM_006516.2:c.517-195T>C	NP_006507.2:n.517-195T>C
NM_006516.3:c.517-195T>C	NP_006507.2:n.517-195T>C
NM_006516.4:c.517-195T>C MANE Select	NP_006507.2:n.517-195T>C