Canonical Allele Identifier: CA392449723

Gene: SLC24A5

Linked Data

• gnomAD v4: 15-48134294-T-G
• MyVariant Identifiers: chr15:g.48426491T>G (hg19) ; chr15:g.48134294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134294T>G , CM000677.2:g.48134294T>G	GRCh38
NC_000015.9:g.48426491T>G , CM000677.1:g.48426491T>G	GRCh37
NC_000015.8:g.46213783T>G	NCBI36
NG_011500.1:g.18323T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.338T>G MANE Select	ENSP00000341550.3:p.Phe113Cys
ENST00000341459.7:c.338T>G	ENSP00000341550.3:p.Phe113Cys
ENST00000449382.2:c.158T>G	ENSP00000389966.2:p.Phe53Cys
ENST00000463289.1:n.98T>G
NM_205850.2:c.338T>G	NP_995322.1:p.Phe113Cys
XM_011521458.1:c.338T>G	XP_011519760.1:p.Phe113Cys
XM_017022079.1:c.-2T>G	XP_016877568.1:n.-2T>G
XM_017022080.1:c.-2T>G	XP_016877569.1:n.-2T>G
XM_024449901.1:c.-2T>G	XP_024305669.1:n.-2T>G
NM_205850.3:c.338T>G MANE Select	NP_995322.1:p.Phe113Cys