Canonical Allele Identifier: CA318433
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207193
ClinVar RCV Id: RCV000189355 RCV000546488 RCV000763337 RCV002288795 RCV004539756 RCV004525897
dbSNP Id: rs796053248
gnomAD v4: 1-42929885-G-A
MyVariant Identifiers: chr1:g.43395556G>A (hg19) chr1:g.42929885G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929885G>A , CM000663.2:g.42929885G>A GRCh38
NC_000001.10:g.43395556G>A , CM000663.1:g.43395556G>A GRCh37
NC_000001.9:g.43168143G>A NCBI36
NG_008232.1:g.34292C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.667C>T MANE Select ENSP00000416293.2:p.Arg223Trp
ENST00000669445.1:c.44C>T
ENST00000674765.1:c.667C>T ENSP00000501811.1:p.Arg223Trp
ENST00000675112.1:n.690C>T
ENST00000676254.1:n.1116C>T
ENST00000426263.7:c.667C>T ENSP00000416293.2:p.Arg223Trp
ENST00000439722.2:c.546C>T ENSP00000395521.2:n.546C>T
ENST00000475162.3:c.415+741C>T
ENST00000630287.2:c.517-105C>T ENSP00000486694.1:n.517-105C>T
NM_006516.2:c.667C>T NP_006507.2:p.Arg223Trp
NM_006516.3:c.667C>T NP_006507.2:p.Arg223Trp
NM_006516.4:c.667C>T MANE Select NP_006507.2:p.Arg223Trp
Search 100 bp 5'
Search 100 bp 3'