Canonical Allele Identifier: CA170933

Gene: SLC17A9

Linked Data

• ClinVar Variation Id: 156579
• ClinVar RCV Id: RCV000144722 ; RCV002247535
• dbSNP Id: rs548728088
• gnomAD v2: 20-61584207-C-T
• gnomAD v3: 20-62952855-C-T
• gnomAD v4: 20-62952855-C-T
• MyVariant Identifiers: chr20:g.61584207C>T (hg19) ; chr20:g.62952855C>T (hg38)
• PubMed: PMID:25180256

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62952855C>T , CM000682.2:g.62952855C>T	GRCh38
NC_000020.10:g.61584207C>T , CM000682.1:g.61584207C>T	GRCh37
NC_000020.9:g.61054652C>T	NCBI36
NG_041785.1:g.5209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370351.9:c.25C>T MANE Select	ENSP00000359376.4:p.Arg9Cys
ENST00000370349.7:c.-56C>T	ENSP00000359374.3:n.-56C>T
ENST00000370351.8:c.25C>T	ENSP00000359376.4:p.Arg9Cys
ENST00000488738.5:n.145C>T
NM_001302643.1:c.-56C>T	NP_001289572.1:n.-56C>T
NM_022082.3:c.25C>T	NP_071365.3:p.Arg9Cys
XM_011528978.1:c.-310C>T	XP_011527280.1:n.-310C>T
XR_936601.1:n.209C>T
XM_011528978.2:c.-310C>T	XP_011527280.1:n.-310C>T
XR_936601.3:n.166C>T
NM_022082.4:c.25C>T MANE Select	NP_071365.4:p.Arg9Cys
NM_001302643.2:c.-56C>T	NP_001289572.2:n.-56C>T