Canonical Allele Identifier: CA411309331

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32445989G>T (hg19) ; chr22:g.32050002G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32050002G>T , CM000684.2:g.32050002G>T	GRCh38
NC_000022.10:g.32445989G>T , CM000684.1:g.32445989G>T	GRCh37
NC_000022.9:g.30775989G>T	NCBI36
NG_017045.1:g.11971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.195G>T MANE Select	ENSP00000266088.4:p.Met65Ile
ENST00000266088.8:c.195G>T	ENSP00000266088.4:p.Met65Ile
NM_000343.3:c.195G>T	NP_000334.1:p.Met65Ile
XM_011530331.1:c.195G>T	XP_011528633.1:p.Met65Ile
NM_000343.4:c.195G>T MANE Select	NP_000334.1:p.Met65Ile