Canonical Allele Identifier: CA392449738

Gene: SLC24A5

Linked Data

• dbSNP Id: rs1178862452
• gnomAD v2: 15-48426494-T-C
• gnomAD v3: 15-48134297-T-C
• gnomAD v4: 15-48134297-T-C
• MyVariant Identifiers: chr15:g.48426494T>C (hg19) ; chr15:g.48134297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134297T>C , CM000677.2:g.48134297T>C	GRCh38
NC_000015.9:g.48426494T>C , CM000677.1:g.48426494T>C	GRCh37
NC_000015.8:g.46213786T>C	NCBI36
NG_011500.1:g.18326T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.341T>C MANE Select	ENSP00000341550.3:p.Met114Thr
ENST00000341459.7:c.341T>C	ENSP00000341550.3:p.Met114Thr
ENST00000449382.2:c.161T>C	ENSP00000389966.2:p.Met54Thr
ENST00000463289.1:n.101T>C
NM_205850.2:c.341T>C	NP_995322.1:p.Met114Thr
XM_011521458.1:c.341T>C	XP_011519760.1:p.Met114Thr
XM_017022079.1:c.2T>C	XP_016877568.1:p.Met1Thr
XM_017022080.1:c.2T>C	XP_016877569.1:p.Met1Thr
XM_024449901.1:c.2T>C	XP_024305669.1:p.Met1Thr
NM_205850.3:c.341T>C MANE Select	NP_995322.1:p.Met114Thr