Canonical Allele Identifier: CA392871098

Gene: SLC51B RASL12

Linked Data

• ClinVar Variation Id: 2785008
• ClinVar RCV Id: RCV003662590
• gnomAD v4: 15-65050073-G-C
• MyVariant Identifiers: chr15:g.65342411G>C (hg19) ; chr15:g.65050073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65050073G>C , CM000677.2:g.65050073G>C	GRCh38
NC_000015.9:g.65342411G>C , CM000677.1:g.65342411G>C	GRCh37
NC_000015.8:g.63129464G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334287.3:c.69G>C (SLC51B) MANE Select	ENSP00000335292.2:p.Glu23Asp
ENST00000334287.2:c.69G>C (SLC51B)	ENSP00000335292.2:p.Glu23Asp
NM_178859.3:c.69G>C (SLC51B)	NP_849190.2:p.Glu23Asp
XM_005254159.3:c.69G>C (SLC51B)	XP_005254216.1:p.Glu23Asp
XM_005254434.3:c.426-4329C>G (RASL12)	XP_005254491.1:n.426-4329C>G
XM_005254159.5:c.69G>C (SLC51B)	XP_005254216.1:p.Glu23Asp
XM_005254434.4:c.426-4329C>G (RASL12)	XP_005254491.1:n.426-4329C>G
NM_178859.4:c.69G>C (SLC51B) MANE Select	NP_849190.2:p.Glu23Asp