Canonical Allele Identifier: CA392449769

Gene: SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48426500C>A (hg19) ; chr15:g.48134303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134303C>A , CM000677.2:g.48134303C>A	GRCh38
NC_000015.9:g.48426500C>A , CM000677.1:g.48426500C>A	GRCh37
NC_000015.8:g.46213792C>A	NCBI36
NG_011500.1:g.18332C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.347C>A MANE Select	ENSP00000341550.3:p.Ala116Glu
ENST00000341459.7:c.347C>A	ENSP00000341550.3:p.Ala116Glu
ENST00000449382.2:c.167C>A	ENSP00000389966.2:p.Ala56Glu
ENST00000463289.1:n.107C>A
NM_205850.2:c.347C>A	NP_995322.1:p.Ala116Glu
XM_011521458.1:c.347C>A	XP_011519760.1:p.Ala116Glu
XM_017022079.1:c.8C>A	XP_016877568.1:p.Ala3Glu
XM_017022080.1:c.8C>A	XP_016877569.1:p.Ala3Glu
XM_024449901.1:c.8C>A	XP_024305669.1:p.Ala3Glu
NM_205850.3:c.347C>A MANE Select	NP_995322.1:p.Ala116Glu