Canonical Allele Identifier: CA21249071

Gene: SLC2A1

Linked Data

• dbSNP Id: rs139722450
• MyVariant Identifiers: chr1:g.43393298C>G (hg19) ; chr1:g.42927627C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927627C>G , CM000663.2:g.42927627C>G	GRCh38
NC_000001.10:g.43393298C>G , CM000663.1:g.43393298C>G	GRCh37
NC_000001.9:g.43165885C>G	NCBI36
NG_008232.1:g.36550G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.1256G>C MANE Select	ENSP00000416293.2:p.Gly419Ala
ENST00000674545.1:n.1873G>C
ENST00000674765.1:c.1030-770G>C	ENSP00000501811.1:n.1030-770G>C
ENST00000675112.1:n.1557G>C
ENST00000676254.1:n.1705G>C
ENST00000426263.7:c.1256G>C	ENSP00000416293.2:p.Gly419Ala
ENST00000475162.3:c.416-649G>C
ENST00000630287.2:c.*571G>C	ENSP00000486694.1:n.*571G>C
NM_006516.2:c.1256G>C	NP_006507.2:p.Gly419Ala
NM_006516.3:c.1256G>C	NP_006507.2:p.Gly419Ala
NM_006516.4:c.1256G>C MANE Select	NP_006507.2:p.Gly419Ala