Canonical Allele Identifier: CA339960456

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930664-G-T
• MyVariant Identifiers: chr1:g.43396335G>T (hg19) ; chr1:g.42930664G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930664G>T , CM000663.2:g.42930664G>T	GRCh38
NC_000001.10:g.43396335G>T , CM000663.1:g.43396335G>T	GRCh37
NC_000001.9:g.43168922G>T	NCBI36
NG_008232.1:g.33513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.478C>A MANE Select	ENSP00000416293.2:p.His160Asn
ENST00000674765.1:c.478C>A	ENSP00000501811.1:p.His160Asn
ENST00000675112.1:n.501C>A
ENST00000676254.1:n.927C>A
ENST00000426263.7:c.478C>A	ENSP00000416293.2:p.His160Asn
ENST00000439722.2:c.357C>A	ENSP00000395521.2:n.357C>A
ENST00000475162.3:c.377C>A
ENST00000625233.2:n.686C>A
ENST00000630287.2:c.478C>A	ENSP00000486694.1:p.His160Asn
NM_006516.2:c.478C>A	NP_006507.2:p.His160Asn
NM_006516.3:c.478C>A	NP_006507.2:p.His160Asn
NM_006516.4:c.478C>A MANE Select	NP_006507.2:p.His160Asn