Canonical Allele Identifier: CA392870813

Gene: SLC51B RASL12

Linked Data

• ClinVar Variation Id: 2869132
• ClinVar RCV Id: RCV003705340
• gnomAD v4: 15-65050050-G-A
• MyVariant Identifiers: chr15:g.65342388G>A (hg19) ; chr15:g.65050050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65050050G>A , CM000677.2:g.65050050G>A	GRCh38
NC_000015.9:g.65342388G>A , CM000677.1:g.65342388G>A	GRCh37
NC_000015.8:g.63129441G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334287.3:c.46G>A (SLC51B) MANE Select	ENSP00000335292.2:p.Val16Ile
ENST00000334287.2:c.46G>A (SLC51B)	ENSP00000335292.2:p.Val16Ile
NM_178859.3:c.46G>A (SLC51B)	NP_849190.2:p.Val16Ile
XM_005254159.3:c.46G>A (SLC51B)	XP_005254216.1:p.Val16Ile
XM_005254434.3:c.426-4306C>T (RASL12)	XP_005254491.1:n.426-4306C>T
XM_005254159.5:c.46G>A (SLC51B)	XP_005254216.1:p.Val16Ile
XM_005254434.4:c.426-4306C>T (RASL12)	XP_005254491.1:n.426-4306C>T
NM_178859.4:c.46G>A (SLC51B) MANE Select	NP_849190.2:p.Val16Ile