Canonical Allele Identifier: CA713372913

Gene: SLC24A5

Linked Data

• dbSNP Id: rs1222716388
• gnomAD v4: 15-48134122-T-A
• MyVariant Identifiers: chr15:g.48426319T>A (hg19) ; chr15:g.48134122T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134122T>A , CM000677.2:g.48134122T>A	GRCh38
NC_000015.9:g.48426319T>A , CM000677.1:g.48426319T>A	GRCh37
NC_000015.8:g.46213611T>A	NCBI36
NG_011500.1:g.18151T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.302-136T>A MANE Select	ENSP00000341550.3:n.302-136T>A
ENST00000341459.7:c.302-136T>A	ENSP00000341550.3:n.302-136T>A
ENST00000449382.2:c.122-136T>A	ENSP00000389966.2:n.122-136T>A
ENST00000463289.1:n.62-136T>A
NM_205850.2:c.302-136T>A	NP_995322.1:n.302-136T>A
XM_011521458.1:c.302-136T>A	XP_011519760.1:n.302-136T>A
XM_017022079.1:c.-38-136T>A	XP_016877568.1:n.-38-136T>A
XM_017022080.1:c.-38-136T>A	XP_016877569.1:n.-38-136T>A
XM_024449901.1:c.-38-136T>A	XP_024305669.1:n.-38-136T>A
NM_205850.3:c.302-136T>A MANE Select	NP_995322.1:n.302-136T>A