Canonical Allele Identifier: CA1165412424

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643468855
• gnomAD v4: 1-42929845-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929845G>A , CM000663.2:g.42929845G>A	GRCh38
NC_000001.10:g.43395516G>A , CM000663.1:g.43395516G>A	GRCh37
NC_000001.9:g.43168103G>A	NCBI36
NG_008232.1:g.34332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.679+28C>T MANE Select	ENSP00000416293.2:n.679+28C>T
ENST00000669445.1:c.56+28C>T
ENST00000674765.1:c.679+28C>T	ENSP00000501811.1:n.679+28C>T
ENST00000675112.1:n.702+28C>T
ENST00000676254.1:n.1128+28C>T
ENST00000426263.7:c.679+28C>T	ENSP00000416293.2:n.679+28C>T
ENST00000439722.2:c.558+28C>T	ENSP00000395521.2:n.558+28C>T
ENST00000475162.3:c.415+781C>T
ENST00000630287.2:c.517-65C>T	ENSP00000486694.1:n.517-65C>T
NM_006516.2:c.679+28C>T	NP_006507.2:n.679+28C>T
NM_006516.3:c.679+28C>T	NP_006507.2:n.679+28C>T
NM_006516.4:c.679+28C>T MANE Select	NP_006507.2:n.679+28C>T