Canonical Allele Identifier: CA392449762

Gene: SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48426499G>A (hg19) ; chr15:g.48134302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134302G>A , CM000677.2:g.48134302G>A	GRCh38
NC_000015.9:g.48426499G>A , CM000677.1:g.48426499G>A	GRCh37
NC_000015.8:g.46213791G>A	NCBI36
NG_011500.1:g.18331G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.346G>A MANE Select	ENSP00000341550.3:p.Ala116Thr
ENST00000341459.7:c.346G>A	ENSP00000341550.3:p.Ala116Thr
ENST00000449382.2:c.166G>A	ENSP00000389966.2:p.Ala56Thr
ENST00000463289.1:n.106G>A
NM_205850.2:c.346G>A	NP_995322.1:p.Ala116Thr
XM_011521458.1:c.346G>A	XP_011519760.1:p.Ala116Thr
XM_017022079.1:c.7G>A	XP_016877568.1:p.Ala3Thr
XM_017022080.1:c.7G>A	XP_016877569.1:p.Ala3Thr
XM_024449901.1:c.7G>A	XP_024305669.1:p.Ala3Thr
NM_205850.3:c.346G>A MANE Select	NP_995322.1:p.Ala116Thr