Canonical Allele Identifier: CA514277416

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500775C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104788C>T , CM000684.2:g.32104788C>T	GRCh38
NC_000022.10:g.32500775C>T , CM000684.1:g.32500775C>T	GRCh37
NC_000022.9:g.30830775C>T	NCBI36
NG_017045.1:g.66757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1668C>T MANE Select	ENSP00000266088.4:p.Leu556=
ENST00000266088.8:c.1668C>T	ENSP00000266088.4:p.Leu556=
ENST00000543737.2:c.1287C>T	ENSP00000444898.1:p.Leu429=
NM_000343.3:c.1668C>T	NP_000334.1:p.Leu556=
NM_001256314.1:c.1287C>T	NP_001243243.1:p.Leu429=
XR_938173.1:n.591+2050G>A
XR_938174.1:n.486+15067G>A
NM_000343.4:c.1668C>T MANE Select	NP_000334.1:p.Leu556=
NM_001256314.2:c.1287C>T	NP_001243243.1:p.Leu429=