Canonical Allele Identifier: CA392449789

Gene: SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48426503G>A (hg19) ; chr15:g.48134306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134306G>A , CM000677.2:g.48134306G>A	GRCh38
NC_000015.9:g.48426503G>A , CM000677.1:g.48426503G>A	GRCh37
NC_000015.8:g.46213795G>A	NCBI36
NG_011500.1:g.18335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.350G>A MANE Select	ENSP00000341550.3:p.Gly117Asp
ENST00000341459.7:c.350G>A	ENSP00000341550.3:p.Gly117Asp
ENST00000449382.2:c.170G>A	ENSP00000389966.2:p.Gly57Asp
ENST00000463289.1:n.110G>A
NM_205850.2:c.350G>A	NP_995322.1:p.Gly117Asp
XM_011521458.1:c.350G>A	XP_011519760.1:p.Gly117Asp
XM_017022079.1:c.11G>A	XP_016877568.1:p.Gly4Asp
XM_017022080.1:c.11G>A	XP_016877569.1:p.Gly4Asp
XM_024449901.1:c.11G>A	XP_024305669.1:p.Gly4Asp
NM_205850.3:c.350G>A MANE Select	NP_995322.1:p.Gly117Asp