Canonical Allele Identifier: CA574442

Gene: SLC2A5

Linked Data

• ClinVar Variation Id: 1222709
• ClinVar RCV Id: RCV001598339
• dbSNP Id: rs5438
• ExAC: 1:9129620 C / T
• gnomAD v2: 1-9129620-C-T
• gnomAD v3: 1-9069561-C-T
• gnomAD v4: 1-9069561-C-T
• MyVariant Identifiers: chr1:g.9129620C>T (hg19) ; chr1:g.9069561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9069561C>T , CM000663.2:g.9069561C>T	GRCh38
NC_000001.10:g.9129620C>T , CM000663.1:g.9129620C>T	GRCh37
NC_000001.9:g.9052207C>T	NCBI36
NG_050918.1:g.28847G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377424.9:c.-25G>A MANE Select	ENSP00000366641.4:n.-25G>A
ENST00000377414.7:c.-25G>A	ENSP00000366631.3:n.-25G>A
ENST00000377424.8:c.-25G>A	ENSP00000366641.4:n.-25G>A
ENST00000464985.5:c.-25G>A	ENSP00000467840.1:n.-25G>A
ENST00000473209.1:c.-25G>A	ENSP00000465285.1:n.-25G>A
ENST00000474145.5:c.-25G>A	ENSP00000464880.1:n.-25G>A
ENST00000479813.5:c.-25G>A	ENSP00000468590.1:n.-25G>A
ENST00000484798.5:c.-25G>A	ENSP00000467039.1:n.-25G>A
ENST00000486632.5:c.-25G>A	ENSP00000465507.1:n.-25G>A
ENST00000487835.5:c.-25G>A	ENSP00000465382.1:n.-25G>A
NM_001135585.1:c.-25G>A	NP_001129057.1:n.-25G>A
NM_003039.2:c.-25G>A	NP_003030.1:n.-25G>A
XM_005263491.2:c.-25G>A	XP_005263548.1:n.-25G>A
XM_011542005.1:c.-205G>A	XP_011540307.1:n.-205G>A
NM_001328619.1:c.-25G>A	NP_001315548.1:n.-25G>A
NM_001328620.1:c.-119G>A	NP_001315549.1:n.-119G>A
NM_001328621.1:c.-81G>A	NP_001315550.1:n.-81G>A
NM_001135585.2:c.-25G>A	NP_001129057.1:n.-25G>A
NM_001328619.2:c.-25G>A	NP_001315548.1:n.-25G>A
NM_001328620.2:c.-119G>A	NP_001315549.1:n.-119G>A
NM_001328621.2:c.-81G>A	NP_001315550.1:n.-81G>A
NM_003039.3:c.-25G>A MANE Select	NP_003030.1:n.-25G>A