Canonical Allele Identifier: CA392449753

Gene: SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48426496G>T (hg19) ; chr15:g.48134299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134299G>T , CM000677.2:g.48134299G>T	GRCh38
NC_000015.9:g.48426496G>T , CM000677.1:g.48426496G>T	GRCh37
NC_000015.8:g.46213788G>T	NCBI36
NG_011500.1:g.18328G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.343G>T MANE Select	ENSP00000341550.3:p.Ala115Ser
ENST00000341459.7:c.343G>T	ENSP00000341550.3:p.Ala115Ser
ENST00000449382.2:c.163G>T	ENSP00000389966.2:p.Ala55Ser
ENST00000463289.1:n.103G>T
NM_205850.2:c.343G>T	NP_995322.1:p.Ala115Ser
XM_011521458.1:c.343G>T	XP_011519760.1:p.Ala115Ser
XM_017022079.1:c.4G>T	XP_016877568.1:p.Ala2Ser
XM_017022080.1:c.4G>T	XP_016877569.1:p.Ala2Ser
XM_024449901.1:c.4G>T	XP_024305669.1:p.Ala2Ser
NM_205850.3:c.343G>T MANE Select	NP_995322.1:p.Ala115Ser