Canonical Allele Identifier: CA392449813

Gene: SLC24A5

Linked Data

• dbSNP Id: rs2038843401
• MyVariant Identifiers: chr15:g.48426508T>G (hg19) ; chr15:g.48134311T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134311T>G , CM000677.2:g.48134311T>G	GRCh38
NC_000015.9:g.48426508T>G , CM000677.1:g.48426508T>G	GRCh37
NC_000015.8:g.46213800T>G	NCBI36
NG_011500.1:g.18340T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.355T>G MANE Select	ENSP00000341550.3:p.Ser119Ala
ENST00000341459.7:c.355T>G	ENSP00000341550.3:p.Ser119Ala
ENST00000449382.2:c.175T>G	ENSP00000389966.2:p.Ser59Ala
ENST00000463289.1:n.115T>G
NM_205850.2:c.355T>G	NP_995322.1:p.Ser119Ala
XM_011521458.1:c.355T>G	XP_011519760.1:p.Ser119Ala
XM_017022079.1:c.16T>G	XP_016877568.1:p.Ser6Ala
XM_017022080.1:c.16T>G	XP_016877569.1:p.Ser6Ala
XM_024449901.1:c.16T>G	XP_024305669.1:p.Ser6Ala
NM_205850.3:c.355T>G MANE Select	NP_995322.1:p.Ser119Ala