Canonical Allele Identifier: CA2656281316

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32050049-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32050049C>T , CM000684.2:g.32050049C>T	GRCh38
NC_000022.10:g.32446036C>T , CM000684.1:g.32446036C>T	GRCh37
NC_000022.9:g.30776036C>T	NCBI36
NG_017045.1:g.12018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.207+35C>T MANE Select	ENSP00000266088.4:n.207+35C>T
ENST00000266088.8:c.207+35C>T	ENSP00000266088.4:n.207+35C>T
NM_000343.3:c.207+35C>T	NP_000334.1:n.207+35C>T
XM_011530331.1:c.207+35C>T	XP_011528633.1:n.207+35C>T
NM_000343.4:c.207+35C>T MANE Select	NP_000334.1:n.207+35C>T