Canonical Allele Identifier: CA019093
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42958622C>A
GRCh37 chr1:g.43424293C>A
gnomAD v2:
1:43424293 C / A
gnomAD v3:
1:42958622 C / A
gnomAD v4:
chr1-42958622-C-A
Joint Max Group AF 0.00087873 (MID)
Genomes Max Group AF 0.00003765 (NFE)
Exomes Max Group AF 0.00078875 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42958622C>A , CM000663.2:g.42958622C>A GRCh38
NC_000001.10:g.43424293C>A , CM000663.1:g.43424293C>A GRCh37
NC_000001.9:g.43196880C>A NCBI36
NG_008232.1:g.5555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.18+12G>T MANE Select ENSP00000416293.2:n.18+12G>T
ENST00000460369.3:c.18+12G>T ENSP00000491942.1:n.18+12G>T
ENST00000674765.1:c.18+12G>T ENSP00000501811.1:n.18+12G>T
ENST00000675112.1:n.41+12G>T
ENST00000676097.1:n.260+12G>T
ENST00000372500.4:c.18+12G>T ENSP00000361578.4:n.18+12G>T
ENST00000415851.6:n.235+12G>T
ENST00000426263.7:c.18+12G>T ENSP00000416293.2:n.18+12G>T
ENST00000460369.2:n.226+12G>T
ENST00000625233.2:n.226+12G>T
ENST00000628173.1:n.237+12G>T
ENST00000630287.2:c.18+12G>T ENSP00000486694.1:n.18+12G>T
ENST00000630821.1:n.235+12G>T
NM_006516.2:c.18+12G>T NP_006507.2:n.18+12G>T
NM_006516.3:c.18+12G>T NP_006507.2:n.18+12G>T
NM_006516.4:c.18+12G>T MANE Select NP_006507.2:n.18+12G>T
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