Canonical Allele Identifier: CA7613517

Gene: SLC51B RASL12

Linked Data

• ClinVar Variation Id: 1975817
• ClinVar RCV Id: RCV002755879 ; RCV004067860
• dbSNP Id: rs147682812
• ExAC: 15:65345387 A / C
• gnomAD v2: 15-65345387-A-C
• gnomAD v3: 15-65053049-A-C
• gnomAD v4: 15-65053049-A-C
• MyVariant Identifiers: chr15:g.65345387A>C (hg19) ; chr15:g.65053049A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65053049A>C , CM000677.2:g.65053049A>C	GRCh38
NC_000015.9:g.65345387A>C , CM000677.1:g.65345387A>C	GRCh37
NC_000015.8:g.63132440A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334287.3:c.272A>C (SLC51B) MANE Select	ENSP00000335292.2:p.Asn91Thr
ENST00000334287.2:c.272A>C (SLC51B)	ENSP00000335292.2:p.Asn91Thr
NM_178859.3:c.272A>C (SLC51B)	NP_849190.2:p.Asn91Thr
XM_005254159.3:c.272A>C (SLC51B)	XP_005254216.1:p.Asn91Thr
XM_005254434.3:c.425+5378T>G (RASL12)	XP_005254491.1:n.425+5378T>G
XM_011521661.1:c.426-984T>G (RASL12)	XP_011519963.1:n.426-984T>G
XM_005254159.5:c.272A>C (SLC51B)	XP_005254216.1:p.Asn91Thr
XM_005254434.4:c.425+5378T>G (RASL12)	XP_005254491.1:n.425+5378T>G
XM_017022296.1:c.426-984T>G (RASL12)	XP_016877785.1:n.426-984T>G
NM_178859.4:c.272A>C (SLC51B) MANE Select	NP_849190.2:p.Asn91Thr