Canonical Allele Identifier: CA392449755

Gene: SLC24A5

Linked Data

• ClinVar Variation Id: 2137668
• ClinVar RCV Id: RCV003041228
• dbSNP Id: rs1359277013
• gnomAD v2: 15-48426497-C-A
• gnomAD v3: 15-48134300-C-A
• gnomAD v4: 15-48134300-C-A
• MyVariant Identifiers: chr15:g.48426497C>A (hg19) ; chr15:g.48134300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134300C>A , CM000677.2:g.48134300C>A	GRCh38
NC_000015.9:g.48426497C>A , CM000677.1:g.48426497C>A	GRCh37
NC_000015.8:g.46213789C>A	NCBI36
NG_011500.1:g.18329C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.344C>A MANE Select	ENSP00000341550.3:p.Ala115Glu
ENST00000341459.7:c.344C>A	ENSP00000341550.3:p.Ala115Glu
ENST00000449382.2:c.164C>A	ENSP00000389966.2:p.Ala55Glu
ENST00000463289.1:n.104C>A
NM_205850.2:c.344C>A	NP_995322.1:p.Ala115Glu
XM_011521458.1:c.344C>A	XP_011519760.1:p.Ala115Glu
XM_017022079.1:c.5C>A	XP_016877568.1:p.Ala2Glu
XM_017022080.1:c.5C>A	XP_016877569.1:p.Ala2Glu
XM_024449901.1:c.5C>A	XP_024305669.1:p.Ala2Glu
NM_205850.3:c.344C>A MANE Select	NP_995322.1:p.Ala115Glu