Canonical Allele Identifier: CA514276589
Gene: SLC5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.32445959T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049972T>G , CM000684.2:g.32049972T>G GRCh38
NC_000022.10:g.32445959T>G , CM000684.1:g.32445959T>G GRCh37
NC_000022.9:g.30775959T>G NCBI36
NG_017045.1:g.11941T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.165T>G MANE Select ENSP00000266088.4:p.Val55=
ENST00000266088.8:c.165T>G ENSP00000266088.4:p.Val55=
NM_000343.3:c.165T>G NP_000334.1:p.Val55=
XM_011530331.1:c.165T>G XP_011528633.1:p.Val55=
NM_000343.4:c.165T>G MANE Select NP_000334.1:p.Val55=