Canonical Allele Identifier: CA713372959

Gene: SLC24A5

Linked Data

• dbSNP Id: rs946244054
• gnomAD v4: 15-48134200-T-A
• MyVariant Identifiers: chr15:g.48426397T>A (hg19) ; chr15:g.48134200T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134200T>A , CM000677.2:g.48134200T>A	GRCh38
NC_000015.9:g.48426397T>A , CM000677.1:g.48426397T>A	GRCh37
NC_000015.8:g.46213689T>A	NCBI36
NG_011500.1:g.18229T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.302-58T>A MANE Select	ENSP00000341550.3:n.302-58T>A
ENST00000341459.7:c.302-58T>A	ENSP00000341550.3:n.302-58T>A
ENST00000449382.2:c.122-58T>A	ENSP00000389966.2:n.122-58T>A
ENST00000463289.1:n.62-58T>A
NM_205850.2:c.302-58T>A	NP_995322.1:n.302-58T>A
XM_011521458.1:c.302-58T>A	XP_011519760.1:n.302-58T>A
XM_017022079.1:c.-38-58T>A	XP_016877568.1:n.-38-58T>A
XM_017022080.1:c.-38-58T>A	XP_016877569.1:n.-38-58T>A
XM_024449901.1:c.-38-58T>A	XP_024305669.1:n.-38-58T>A
NM_205850.3:c.302-58T>A MANE Select	NP_995322.1:n.302-58T>A