Canonical Allele Identifier: CA7545844

Gene: SLC24A5

Linked Data

• dbSNP Id: rs150379789
• ExAC: 15:48426500 C / T
• gnomAD v2: 15-48426500-C-T
• gnomAD v3: 15-48134303-C-T
• gnomAD v4: 15-48134303-C-T
• COSMIC: COSM1636912
• MyVariant Identifiers: chr15:g.48426500C>T (hg19) ; chr15:g.48134303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134303C>T , CM000677.2:g.48134303C>T	GRCh38
NC_000015.9:g.48426500C>T , CM000677.1:g.48426500C>T	GRCh37
NC_000015.8:g.46213792C>T	NCBI36
NG_011500.1:g.18332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.347C>T MANE Select	ENSP00000341550.3:p.Ala116Val
ENST00000341459.7:c.347C>T	ENSP00000341550.3:p.Ala116Val
ENST00000449382.2:c.167C>T	ENSP00000389966.2:p.Ala56Val
ENST00000463289.1:n.107C>T
NM_205850.2:c.347C>T	NP_995322.1:p.Ala116Val
XM_011521458.1:c.347C>T	XP_011519760.1:p.Ala116Val
XM_017022079.1:c.8C>T	XP_016877568.1:p.Ala3Val
XM_017022080.1:c.8C>T	XP_016877569.1:p.Ala3Val
XM_024449901.1:c.8C>T	XP_024305669.1:p.Ala3Val
NM_205850.3:c.347C>T MANE Select	NP_995322.1:p.Ala116Val