Canonical Allele Identifier: CA392449730

Gene: SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48426493A>C (hg19) ; chr15:g.48134296A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134296A>C , CM000677.2:g.48134296A>C	GRCh38
NC_000015.9:g.48426493A>C , CM000677.1:g.48426493A>C	GRCh37
NC_000015.8:g.46213785A>C	NCBI36
NG_011500.1:g.18325A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.340A>C MANE Select	ENSP00000341550.3:p.Met114Leu
ENST00000341459.7:c.340A>C	ENSP00000341550.3:p.Met114Leu
ENST00000449382.2:c.160A>C	ENSP00000389966.2:p.Met54Leu
ENST00000463289.1:n.100A>C
NM_205850.2:c.340A>C	NP_995322.1:p.Met114Leu
XM_011521458.1:c.340A>C	XP_011519760.1:p.Met114Leu
XM_017022079.1:c.1A>C	XP_016877568.1:p.Met1Leu
XM_017022080.1:c.1A>C	XP_016877569.1:p.Met1Leu
XM_024449901.1:c.1A>C	XP_024305669.1:p.Met1Leu
NM_205850.3:c.340A>C MANE Select	NP_995322.1:p.Met114Leu