Canonical Allele Identifier: CA7545842

Gene: SLC24A5

Linked Data

• ClinVar Variation Id: 263273
• ClinVar RCV Id: RCV000250857 ; RCV001723865
• dbSNP Id: rs1426654
• ExAC: 15:48426484 A / G
• gnomAD v2: 15-48426484-A-G
• gnomAD v3: 15-48134287-A-G
• gnomAD v4: 15-48134287-A-G
• MyVariant Identifiers: chr15:g.48426484A>G (hg19) ; chr15:g.48134287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134287A>G , CM000677.2:g.48134287A>G	GRCh38
NC_000015.9:g.48426484A>G , CM000677.1:g.48426484A>G	GRCh37
NC_000015.8:g.46213776A>G	NCBI36
NG_011500.1:g.18316A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.331A>G MANE Select	ENSP00000341550.3:p.Thr111Ala
ENST00000341459.7:c.331A>G	ENSP00000341550.3:p.Thr111Ala
ENST00000449382.2:c.151A>G	ENSP00000389966.2:p.Thr51Ala
ENST00000463289.1:n.91A>G
NM_205850.2:c.331A>G	NP_995322.1:p.Thr111Ala
XM_011521458.1:c.331A>G	XP_011519760.1:p.Thr111Ala
XM_017022079.1:c.-9A>G	XP_016877568.1:n.-9A>G
XM_017022080.1:c.-9A>G	XP_016877569.1:n.-9A>G
XM_024449901.1:c.-9A>G	XP_024305669.1:n.-9A>G
NM_205850.3:c.331A>G MANE Select	NP_995322.1:p.Thr111Ala