Canonical Allele Identifier: CA411314841

Gene: SLC5A1

Linked Data

• dbSNP Id: rs1603145443
• gnomAD v4: 22-32104871-C-T
• MyVariant Identifiers: chr22:g.32500858C>T (hg19) ; chr22:g.32104871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104871C>T , CM000684.2:g.32104871C>T	GRCh38
NC_000022.10:g.32500858C>T , CM000684.1:g.32500858C>T	GRCh37
NC_000022.9:g.30830858C>T	NCBI36
NG_017045.1:g.66840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1751C>T MANE Select	ENSP00000266088.4:p.Pro584Leu
ENST00000266088.8:c.1751C>T	ENSP00000266088.4:p.Pro584Leu
ENST00000543737.2:c.1370C>T	ENSP00000444898.1:p.Pro457Leu
NM_000343.3:c.1751C>T	NP_000334.1:p.Pro584Leu
NM_001256314.1:c.1370C>T	NP_001243243.1:p.Pro457Leu
XR_938173.1:n.591+1967G>A
XR_938174.1:n.486+14984G>A
NM_000343.4:c.1751C>T MANE Select	NP_000334.1:p.Pro584Leu
NM_001256314.2:c.1370C>T	NP_001243243.1:p.Pro457Leu