Canonical Allele Identifier: CA411309302
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32049998-G-C
MyVariant Identifiers: chr22:g.32445985G>C (hg19) chr22:g.32049998G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049998G>C , CM000684.2:g.32049998G>C GRCh38
NC_000022.10:g.32445985G>C , CM000684.1:g.32445985G>C GRCh37
NC_000022.9:g.30775985G>C NCBI36
NG_017045.1:g.11967G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.191G>C MANE Select ENSP00000266088.4:p.Ser64Thr
ENST00000266088.8:c.191G>C ENSP00000266088.4:p.Ser64Thr
NM_000343.3:c.191G>C NP_000334.1:p.Ser64Thr
XM_011530331.1:c.191G>C XP_011528633.1:p.Ser64Thr
NM_000343.4:c.191G>C MANE Select NP_000334.1:p.Ser64Thr
Search 100 bp 5'
Search 100 bp 3'