Canonical Allele Identifier: CA392449802

Gene: SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48426506G>A (hg19) ; chr15:g.48134309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134309G>A , CM000677.2:g.48134309G>A	GRCh38
NC_000015.9:g.48426506G>A , CM000677.1:g.48426506G>A	GRCh37
NC_000015.8:g.46213798G>A	NCBI36
NG_011500.1:g.18338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.353G>A MANE Select	ENSP00000341550.3:p.Ser118Asn
ENST00000341459.7:c.353G>A	ENSP00000341550.3:p.Ser118Asn
ENST00000449382.2:c.173G>A	ENSP00000389966.2:p.Ser58Asn
ENST00000463289.1:n.113G>A
NM_205850.2:c.353G>A	NP_995322.1:p.Ser118Asn
XM_011521458.1:c.353G>A	XP_011519760.1:p.Ser118Asn
XM_017022079.1:c.14G>A	XP_016877568.1:p.Ser5Asn
XM_017022080.1:c.14G>A	XP_016877569.1:p.Ser5Asn
XM_024449901.1:c.14G>A	XP_024305669.1:p.Ser5Asn
NM_205850.3:c.353G>A MANE Select	NP_995322.1:p.Ser118Asn