Canonical Allele Identifier: CA21251666
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1032710448
gnomAD v4: 1-42930214-G-A
MyVariant Identifiers: chr1:g.42930214G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930214G>A , CM000663.2:g.42930214G>A GRCh38
NC_000001.10:g.43395885G>A , CM000663.1:g.43395885G>A GRCh37
NC_000001.9:g.43168472G>A NCBI36
NG_008232.1:g.33963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.517-179C>T MANE Select ENSP00000416293.2:n.517-179C>T
ENST00000674765.1:c.517-179C>T ENSP00000501811.1:n.517-179C>T
ENST00000675112.1:n.540-179C>T
ENST00000676254.1:n.966-179C>T
ENST00000426263.7:c.517-179C>T ENSP00000416293.2:n.517-179C>T
ENST00000439722.2:c.396-179C>T ENSP00000395521.2:n.396-179C>T
ENST00000475162.3:c.415+412C>T
ENST00000630287.2:c.516+412C>T ENSP00000486694.1:n.516+412C>T
NM_006516.2:c.517-179C>T NP_006507.2:n.517-179C>T
NM_006516.3:c.517-179C>T NP_006507.2:n.517-179C>T
NM_006516.4:c.517-179C>T MANE Select NP_006507.2:n.517-179C>T
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