Canonical Allele Identifier: CA522496572
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1180876324
gnomAD v2: 1-43395887-A-G
gnomAD v3: 1-42930216-A-G
gnomAD v4: 1-42930216-A-G
MyVariant Identifiers: chr1:g.43395887A>G (hg19) chr1:g.42930216A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930216A>G , CM000663.2:g.42930216A>G GRCh38
NC_000001.10:g.43395887A>G , CM000663.1:g.43395887A>G GRCh37
NC_000001.9:g.43168474A>G NCBI36
NG_008232.1:g.33961T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.517-181T>C MANE Select ENSP00000416293.2:n.517-181T>C
ENST00000674765.1:c.517-181T>C ENSP00000501811.1:n.517-181T>C
ENST00000675112.1:n.540-181T>C
ENST00000676254.1:n.966-181T>C
ENST00000426263.7:c.517-181T>C ENSP00000416293.2:n.517-181T>C
ENST00000439722.2:c.396-181T>C ENSP00000395521.2:n.396-181T>C
ENST00000475162.3:c.415+410T>C
ENST00000630287.2:c.516+410T>C ENSP00000486694.1:n.516+410T>C
NM_006516.2:c.517-181T>C NP_006507.2:n.517-181T>C
NM_006516.3:c.517-181T>C NP_006507.2:n.517-181T>C
NM_006516.4:c.517-181T>C MANE Select NP_006507.2:n.517-181T>C
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