Canonical Allele Identifier: CA514277451

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32104857-C-T
• MyVariant Identifiers: chr22:g.32500844C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1737C>T MANE Select	ENSP00000266088.4:p.Asn579=
ENST00000266088.8:c.1737C>T	ENSP00000266088.4:p.Asn579=
ENST00000543737.2:c.1356C>T	ENSP00000444898.1:p.Asn452=
NM_000343.3:c.1737C>T	NP_000334.1:p.Asn579=
NM_001256314.1:c.1356C>T	NP_001243243.1:p.Asn452=
XR_938173.1:n.591+1981G>A
XR_938174.1:n.486+14998G>A
NM_000343.4:c.1737C>T MANE Select	NP_000334.1:p.Asn579=
NM_001256314.2:c.1356C>T	NP_001243243.1:p.Asn452=