Canonical Allele Identifier: CA522805069

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1335391913
• gnomAD v2: 1-43393517-G-A
• MyVariant Identifiers: chr1:g.43393517G>A (hg19) ; chr1:g.42927846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927846G>A , CM000663.2:g.42927846G>A	GRCh38
NC_000001.10:g.43393517G>A , CM000663.1:g.43393517G>A	GRCh37
NC_000001.9:g.43166104G>A	NCBI36
NG_008232.1:g.36331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-38C>T MANE Select	ENSP00000416293.2:n.1075-38C>T
ENST00000674545.1:n.1654C>T
ENST00000674765.1:c.1030-989C>T	ENSP00000501811.1:n.1030-989C>T
ENST00000675112.1:n.1376-38C>T
ENST00000676254.1:n.1524-38C>T
ENST00000426263.7:c.1075-38C>T	ENSP00000416293.2:n.1075-38C>T
ENST00000475162.3:c.416-868C>T
ENST00000630287.2:c.*390-38C>T	ENSP00000486694.1:n.*390-38C>T
NM_006516.2:c.1075-38C>T	NP_006507.2:n.1075-38C>T
NM_006516.3:c.1075-38C>T	NP_006507.2:n.1075-38C>T
NM_006516.4:c.1075-38C>T MANE Select	NP_006507.2:n.1075-38C>T