Canonical Allele Identifier: CA411314792

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500844C>A (hg19) ; chr22:g.32104857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104857C>A , CM000684.2:g.32104857C>A	GRCh38
NC_000022.10:g.32500844C>A , CM000684.1:g.32500844C>A	GRCh37
NC_000022.9:g.30830844C>A	NCBI36
NG_017045.1:g.66826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1737C>A MANE Select	ENSP00000266088.4:p.Asn579Lys
ENST00000266088.8:c.1737C>A	ENSP00000266088.4:p.Asn579Lys
ENST00000543737.2:c.1356C>A	ENSP00000444898.1:p.Asn452Lys
NM_000343.3:c.1737C>A	NP_000334.1:p.Asn579Lys
NM_001256314.1:c.1356C>A	NP_001243243.1:p.Asn452Lys
XR_938173.1:n.591+1981G>T
XR_938174.1:n.486+14998G>T
NM_000343.4:c.1737C>A MANE Select	NP_000334.1:p.Asn579Lys
NM_001256314.2:c.1356C>A	NP_001243243.1:p.Asn452Lys