Canonical Allele Identifier: CA10659000
Community Standard Title: NM_003039.3(SLC2A5):c.1175-189G>A
Gene: SLC2A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9038213C>T , CM000663.2:g.9038213C>T GRCh38
NC_000001.10:g.9098272C>T , CM000663.1:g.9098272C>T GRCh37
NC_000001.9:g.9020859C>T NCBI36
NG_050918.1:g.60195G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003039.3:c.1175-189G>A MANE Select NP_003030.1:n.1175-189G>A
ENST00000377424.9:c.1175-189G>A MANE Select ENSP00000366641.4:n.1175-189G>A
NM_001328619.1:c.1175-189G>A NP_001315548.1:n.1175-189G>A
NM_001328619.2:c.1175-189G>A NP_001315548.1:n.1175-189G>A
NM_001328620.1:c.1043-189G>A NP_001315549.1:n.1043-189G>A
NM_001328620.2:c.1043-189G>A NP_001315549.1:n.1043-189G>A
NM_001328621.1:c.734-189G>A NP_001315550.1:n.734-189G>A
NM_001328621.2:c.734-189G>A NP_001315550.1:n.734-189G>A
NM_003039.2:c.1175-189G>A NP_003030.1:n.1175-189G>A
ENST00000377424.8:c.1175-189G>A ENSP00000366641.4:n.1175-189G>A
XM_005263491.2:c.1175-189G>A XP_005263548.1:n.1175-189G>A
XM_011542005.1:c.1145-189G>A XP_011540307.1:n.1145-189G>A