Canonical Allele Identifier: CA17721353
Community Standard Title: NM_003039.3(SLC2A5):c.293+136T>C
Gene: SLC2A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9057312A>G , CM000663.2:g.9057312A>G GRCh38
NC_000001.10:g.9117371A>G , CM000663.1:g.9117371A>G GRCh37
NC_000001.9:g.9039958A>G NCBI36
NG_050918.1:g.41096T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003039.3:c.293+136T>C MANE Select NP_003030.1:n.293+136T>C
ENST00000377424.9:c.293+136T>C MANE Select ENSP00000366641.4:n.293+136T>C
NM_001135585.1:c.293+136T>C NP_001129057.1:n.293+136T>C
NM_001135585.2:c.293+136T>C NP_001129057.1:n.293+136T>C
NM_001328619.1:c.293+136T>C NP_001315548.1:n.293+136T>C
NM_001328619.2:c.293+136T>C NP_001315548.1:n.293+136T>C
NM_001328620.1:c.161+136T>C NP_001315549.1:n.161+136T>C
NM_001328620.2:c.161+136T>C NP_001315549.1:n.161+136T>C
NM_001328621.1:c.-24+12192T>C NP_001315550.1:n.-24+12192T>C
NM_001328621.2:c.-24+12192T>C NP_001315550.1:n.-24+12192T>C
NM_003039.2:c.293+136T>C NP_003030.1:n.293+136T>C
ENST00000377414.7:c.293+136T>C ENSP00000366631.3:n.293+136T>C
ENST00000377424.8:c.293+136T>C ENSP00000366641.4:n.293+136T>C
ENST00000464985.5:c.293+136T>C ENSP00000467840.1:n.293+136T>C
ENST00000474145.5:c.293+136T>C ENSP00000464880.1:n.293+136T>C
ENST00000479813.5:c.293+136T>C ENSP00000468590.1:n.293+136T>C
ENST00000484798.5:c.293+136T>C ENSP00000467039.1:n.293+136T>C
ENST00000486632.5:c.293+136T>C ENSP00000465507.1:n.293+136T>C
ENST00000487835.5:c.293+136T>C ENSP00000465382.1:n.293+136T>C
XM_005263491.2:c.293+136T>C XP_005263548.1:n.293+136T>C
XM_011542005.1:c.263+136T>C XP_011540307.1:n.263+136T>C