Canonical Allele Identifier: CA7613457

Gene: SLC51B RASL12

Linked Data

• ClinVar Variation Id: 2614175
• ClinVar RCV Id: RCV003661049 ; RCV004356521
• dbSNP Id: rs772137491
• ExAC: 15:65342380 G / A
• gnomAD v2: 15-65342380-G-A
• gnomAD v3: 15-65050042-G-A
• gnomAD v4: 15-65050042-G-A
• MyVariant Identifiers: chr15:g.65342380G>A (hg19) ; chr15:g.65050042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65050042G>A , CM000677.2:g.65050042G>A	GRCh38
NC_000015.9:g.65342380G>A , CM000677.1:g.65342380G>A	GRCh37
NC_000015.8:g.63129433G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334287.3:c.38G>A (SLC51B) MANE Select	ENSP00000335292.2:p.Gly13Asp
ENST00000334287.2:c.38G>A (SLC51B)	ENSP00000335292.2:p.Gly13Asp
NM_178859.3:c.38G>A (SLC51B)	NP_849190.2:p.Gly13Asp
XM_005254159.3:c.38G>A (SLC51B)	XP_005254216.1:p.Gly13Asp
XM_005254434.3:c.426-4298C>T (RASL12)	XP_005254491.1:n.426-4298C>T
XM_005254159.5:c.38G>A (SLC51B)	XP_005254216.1:p.Gly13Asp
XM_005254434.4:c.426-4298C>T (RASL12)	XP_005254491.1:n.426-4298C>T
NM_178859.4:c.38G>A (SLC51B) MANE Select	NP_849190.2:p.Gly13Asp