Canonical Allele Identifier: CA392449721

Gene: SLC24A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.338T>C MANE Select	ENSP00000341550.3:p.Phe113Ser
ENST00000341459.7:c.338T>C	ENSP00000341550.3:p.Phe113Ser
ENST00000449382.2:c.158T>C	ENSP00000389966.2:p.Phe53Ser
ENST00000463289.1:n.98T>C
NM_205850.2:c.338T>C	NP_995322.1:p.Phe113Ser
XM_011521458.1:c.338T>C	XP_011519760.1:p.Phe113Ser
XM_017022079.1:c.-2T>C	XP_016877568.1:n.-2T>C
XM_017022080.1:c.-2T>C	XP_016877569.1:n.-2T>C
XM_024449901.1:c.-2T>C	XP_024305669.1:n.-2T>C
NM_205850.3:c.338T>C MANE Select	NP_995322.1:p.Phe113Ser