Canonical Allele Identifier: CA10197816

Gene: SLC5A1

Linked Data

• ClinVar Variation Id: 502121
• ClinVar RCV Id: RCV000593428 ; RCV001150307 ; RCV003424166
• dbSNP Id: rs150288967
• ExAC: 22:32439303 C / T
• gnomAD v2: 22-32439303-C-T
• gnomAD v3: 22-32043316-C-T
• gnomAD v4: 22-32043316-C-T
• MyVariant Identifiers: chr22:g.32439303C>T (hg19) ; chr22:g.32043316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32043316C>T , CM000684.2:g.32043316C>T	GRCh38
NC_000022.10:g.32439303C>T , CM000684.1:g.32439303C>T	GRCh37
NC_000022.9:g.30769303C>T	NCBI36
NG_017045.1:g.5285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.35C>T MANE Select	ENSP00000266088.4:p.Ala12Val
ENST00000266088.8:c.35C>T	ENSP00000266088.4:p.Ala12Val
NM_000343.3:c.35C>T	NP_000334.1:p.Ala12Val
XM_011530331.1:c.35C>T	XP_011528633.1:p.Ala12Val
NM_000343.4:c.35C>T MANE Select	NP_000334.1:p.Ala12Val