Canonical Allele Identifier: CA339960712

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396385T>A (hg19) ; chr1:g.42930714T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930714T>A , CM000663.2:g.42930714T>A	GRCh38
NC_000001.10:g.43396385T>A , CM000663.1:g.43396385T>A	GRCh37
NC_000001.9:g.43168972T>A	NCBI36
NG_008232.1:g.33463A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.428A>T MANE Select	ENSP00000416293.2:p.Tyr143Phe
ENST00000674765.1:c.428A>T	ENSP00000501811.1:p.Tyr143Phe
ENST00000675112.1:n.451A>T
ENST00000676254.1:n.877A>T
ENST00000372500.4:c.332A>T	ENSP00000361578.4:p.Tyr111Phe
ENST00000426263.7:c.428A>T	ENSP00000416293.2:p.Tyr143Phe
ENST00000439722.2:c.307A>T	ENSP00000395521.2:n.307A>T
ENST00000475162.3:c.327A>T
ENST00000625233.2:n.636A>T
ENST00000630287.2:c.428A>T	ENSP00000486694.1:p.Tyr143Phe
NM_006516.2:c.428A>T	NP_006507.2:p.Tyr143Phe
NM_006516.3:c.428A>T	NP_006507.2:p.Tyr143Phe
NM_006516.4:c.428A>T MANE Select	NP_006507.2:p.Tyr143Phe