Canonical Allele Identifier: CA1165411618
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1643444832
gnomAD v4: 1-42927885-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927885G>A , CM000663.2:g.42927885G>A GRCh38
NC_000001.10:g.43393556G>A , CM000663.1:g.43393556G>A GRCh37
NC_000001.9:g.43166143G>A NCBI36
NG_008232.1:g.36292C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-77C>T MANE Select ENSP00000416293.2:n.1075-77C>T
ENST00000674545.1:n.1615C>T
ENST00000674765.1:c.1030-1028C>T ENSP00000501811.1:n.1030-1028C>T
ENST00000675112.1:n.1376-77C>T
ENST00000676254.1:n.1524-77C>T
ENST00000426263.7:c.1075-77C>T ENSP00000416293.2:n.1075-77C>T
ENST00000475162.3:c.416-907C>T
ENST00000630287.2:c.*390-77C>T ENSP00000486694.1:n.*390-77C>T
NM_006516.2:c.1075-77C>T NP_006507.2:n.1075-77C>T
NM_006516.3:c.1075-77C>T NP_006507.2:n.1075-77C>T
NM_006516.4:c.1075-77C>T MANE Select NP_006507.2:n.1075-77C>T
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