Canonical Allele Identifier: CA339961305
Gene: SLC2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.43396503A>G (hg19) chr1:g.42930832A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930832A>G , CM000663.2:g.42930832A>G GRCh38
NC_000001.10:g.43396503A>G , CM000663.1:g.43396503A>G GRCh37
NC_000001.9:g.43169090A>G NCBI36
NG_008232.1:g.33345T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.310T>C MANE Select ENSP00000416293.2:p.Phe104Leu
ENST00000674765.1:c.310T>C ENSP00000501811.1:p.Phe104Leu
ENST00000675112.1:n.333T>C
ENST00000676254.1:n.759T>C
ENST00000372500.4:c.214T>C ENSP00000361578.4:p.Phe72Leu
ENST00000426263.7:c.310T>C ENSP00000416293.2:p.Phe104Leu
ENST00000439722.2:c.189T>C ENSP00000395521.2:n.189T>C
ENST00000475162.3:c.209T>C
ENST00000625233.2:n.518T>C
ENST00000630287.2:c.310T>C ENSP00000486694.1:p.Phe104Leu
NM_006516.2:c.310T>C NP_006507.2:p.Phe104Leu
NM_006516.3:c.310T>C NP_006507.2:p.Phe104Leu
NM_006516.4:c.310T>C MANE Select NP_006507.2:p.Phe104Leu
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