Canonical Allele Identifier: CA2656281243

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32049821-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32049821G>T , CM000684.2:g.32049821G>T	GRCh38
NC_000022.10:g.32445808G>T , CM000684.1:g.32445808G>T	GRCh37
NC_000022.9:g.30775808G>T	NCBI36
NG_017045.1:g.11790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.136-122G>T MANE Select	ENSP00000266088.4:n.136-122G>T
ENST00000266088.8:c.136-122G>T	ENSP00000266088.4:n.136-122G>T
NM_000343.3:c.136-122G>T	NP_000334.1:n.136-122G>T
XM_011530331.1:c.136-122G>T	XP_011528633.1:n.136-122G>T
NM_000343.4:c.136-122G>T MANE Select	NP_000334.1:n.136-122G>T