Canonical Allele Identifier: CA392842761

Gene: SLC51B RASL12

Linked Data

• ClinVar Variation Id: 2129034
• ClinVar RCV Id: RCV003040341
• gnomAD v4: 15-65053075-A-G
• MyVariant Identifiers: chr15:g.65345413A>G (hg19) ; chr15:g.65053075A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65053075A>G , CM000677.2:g.65053075A>G	GRCh38
NC_000015.9:g.65345413A>G , CM000677.1:g.65345413A>G	GRCh37
NC_000015.8:g.63132466A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334287.3:c.298A>G (SLC51B) MANE Select	ENSP00000335292.2:p.Lys100Glu
ENST00000334287.2:c.298A>G (SLC51B)	ENSP00000335292.2:p.Lys100Glu
NM_178859.3:c.298A>G (SLC51B)	NP_849190.2:p.Lys100Glu
XM_005254159.3:c.298A>G (SLC51B)	XP_005254216.1:p.Lys100Glu
XM_005254434.3:c.425+5352T>C (RASL12)	XP_005254491.1:n.425+5352T>C
XM_011521661.1:c.426-1010T>C (RASL12)	XP_011519963.1:n.426-1010T>C
XM_005254159.5:c.298A>G (SLC51B)	XP_005254216.1:p.Lys100Glu
XM_005254434.4:c.425+5352T>C (RASL12)	XP_005254491.1:n.425+5352T>C
XM_017022296.1:c.426-1010T>C (RASL12)	XP_016877785.1:n.426-1010T>C
NM_178859.4:c.298A>G (SLC51B) MANE Select	NP_849190.2:p.Lys100Glu