Canonical Allele Identifier: CA392449815

Gene: SLC24A5

Linked Data

• gnomAD v4: 15-48134311-T-C
• MyVariant Identifiers: chr15:g.48426508T>C (hg19) ; chr15:g.48134311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134311T>C , CM000677.2:g.48134311T>C	GRCh38
NC_000015.9:g.48426508T>C , CM000677.1:g.48426508T>C	GRCh37
NC_000015.8:g.46213800T>C	NCBI36
NG_011500.1:g.18340T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.355T>C MANE Select	ENSP00000341550.3:p.Ser119Pro
ENST00000341459.7:c.355T>C	ENSP00000341550.3:p.Ser119Pro
ENST00000449382.2:c.175T>C	ENSP00000389966.2:p.Ser59Pro
ENST00000463289.1:n.115T>C
NM_205850.2:c.355T>C	NP_995322.1:p.Ser119Pro
XM_011521458.1:c.355T>C	XP_011519760.1:p.Ser119Pro
XM_017022079.1:c.16T>C	XP_016877568.1:p.Ser6Pro
XM_017022080.1:c.16T>C	XP_016877569.1:p.Ser6Pro
XM_024449901.1:c.16T>C	XP_024305669.1:p.Ser6Pro
NM_205850.3:c.355T>C MANE Select	NP_995322.1:p.Ser119Pro