Canonical Allele Identifier: CA490090365

Gene: SLC24A5

Linked Data

• dbSNP Id: rs749544443
• gnomAD v3: 15-48134304-G-C
• gnomAD v4: 15-48134304-G-C
• MyVariant Identifiers: chr15:g.48426501G>C (hg19) ; chr15:g.48134304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134304G>C , CM000677.2:g.48134304G>C	GRCh38
NC_000015.9:g.48426501G>C , CM000677.1:g.48426501G>C	GRCh37
NC_000015.8:g.46213793G>C	NCBI36
NG_011500.1:g.18333G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.348G>C MANE Select	ENSP00000341550.3:p.Ala116=
ENST00000341459.7:c.348G>C	ENSP00000341550.3:p.Ala116=
ENST00000449382.2:c.168G>C	ENSP00000389966.2:p.Ala56=
ENST00000463289.1:n.108G>C
NM_205850.2:c.348G>C	NP_995322.1:p.Ala116=
XM_011521458.1:c.348G>C	XP_011519760.1:p.Ala116=
XM_017022079.1:c.9G>C	XP_016877568.1:p.Ala3=
XM_017022080.1:c.9G>C	XP_016877569.1:p.Ala3=
XM_024449901.1:c.9G>C	XP_024305669.1:p.Ala3=
NM_205850.3:c.348G>C MANE Select	NP_995322.1:p.Ala116=