Canonical Allele Identifier: CA392449791

Gene: SLC24A5

Linked Data

• ClinVar Variation Id: 2094182
• ClinVar RCV Id: RCV003010212
• MyVariant Identifiers: chr15:g.48426503G>T (hg19) ; chr15:g.48134306G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.350G>T MANE Select	ENSP00000341550.3:p.Gly117Val
ENST00000341459.7:c.350G>T	ENSP00000341550.3:p.Gly117Val
ENST00000449382.2:c.170G>T	ENSP00000389966.2:p.Gly57Val
ENST00000463289.1:n.110G>T
NM_205850.2:c.350G>T	NP_995322.1:p.Gly117Val
XM_011521458.1:c.350G>T	XP_011519760.1:p.Gly117Val
XM_017022079.1:c.11G>T	XP_016877568.1:p.Gly4Val
XM_017022080.1:c.11G>T	XP_016877569.1:p.Gly4Val
XM_024449901.1:c.11G>T	XP_024305669.1:p.Gly4Val
NM_205850.3:c.350G>T MANE Select	NP_995322.1:p.Gly117Val