Canonical Allele Identifier: CA490090363

Gene: SLC24A5

Linked Data

• dbSNP Id: rs1465087333
• gnomAD v2: 15-48426498-A-G
• gnomAD v4: 15-48134301-A-G
• MyVariant Identifiers: chr15:g.48426498A>G (hg19) ; chr15:g.48134301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134301A>G , CM000677.2:g.48134301A>G	GRCh38
NC_000015.9:g.48426498A>G , CM000677.1:g.48426498A>G	GRCh37
NC_000015.8:g.46213790A>G	NCBI36
NG_011500.1:g.18330A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.345A>G MANE Select	ENSP00000341550.3:p.Ala115=
ENST00000341459.7:c.345A>G	ENSP00000341550.3:p.Ala115=
ENST00000449382.2:c.165A>G	ENSP00000389966.2:p.Ala55=
ENST00000463289.1:n.105A>G
NM_205850.2:c.345A>G	NP_995322.1:p.Ala115=
XM_011521458.1:c.345A>G	XP_011519760.1:p.Ala115=
XM_017022079.1:c.6A>G	XP_016877568.1:p.Ala2=
XM_017022080.1:c.6A>G	XP_016877569.1:p.Ala2=
XM_024449901.1:c.6A>G	XP_024305669.1:p.Ala2=
NM_205850.3:c.345A>G MANE Select	NP_995322.1:p.Ala115=