Canonical Allele Identifier: CA411309183

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32445957G>T (hg19) ; chr22:g.32049970G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32049970G>T , CM000684.2:g.32049970G>T	GRCh38
NC_000022.10:g.32445957G>T , CM000684.1:g.32445957G>T	GRCh37
NC_000022.9:g.30775957G>T	NCBI36
NG_017045.1:g.11939G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266088.9:c.163G>T MANE Select	ENSP00000266088.4:p.Val55Phe
ENST00000266088.8:c.163G>T	ENSP00000266088.4:p.Val55Phe
NM_000343.3:c.163G>T	NP_000334.1:p.Val55Phe
XM_011530331.1:c.163G>T	XP_011528633.1:p.Val55Phe
NM_000343.4:c.163G>T MANE Select	NP_000334.1:p.Val55Phe