Canonical Allele Identifier: CA514277462

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500868C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104881C>G , CM000684.2:g.32104881C>G	GRCh38
NC_000022.10:g.32500868C>G , CM000684.1:g.32500868C>G	GRCh37
NC_000022.9:g.30830868C>G	NCBI36
NG_017045.1:g.66850C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1761C>G MANE Select	ENSP00000266088.4:p.Thr587=
ENST00000266088.8:c.1761C>G	ENSP00000266088.4:p.Thr587=
ENST00000543737.2:c.1380C>G	ENSP00000444898.1:p.Thr460=
NM_000343.3:c.1761C>G	NP_000334.1:p.Thr587=
NM_001256314.1:c.1380C>G	NP_001243243.1:p.Thr460=
XR_938173.1:n.591+1957G>C
XR_938174.1:n.486+14974G>C
NM_000343.4:c.1761C>G MANE Select	NP_000334.1:p.Thr587=
NM_001256314.2:c.1380C>G	NP_001243243.1:p.Thr460=