Canonical Allele Identifier: CA392450441

Gene: MYEF2 SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48427090C>A (hg19) ; chr15:g.48134893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134893C>A , CM000677.2:g.48134893C>A	GRCh38
NC_000015.9:g.48427090C>A , CM000677.1:g.48427090C>A	GRCh37
NC_000015.8:g.46214382C>A	NCBI36
NG_011500.1:g.18922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324324.12:c.*8015G>T (MYEF2) MANE Select	ENSP00000316950.7:n.*8015G>T
ENST00000341459.8:c.499C>A (SLC24A5) MANE Select	ENSP00000341550.3:p.Leu167Ile
ENST00000324324.11:c.*8015G>T (MYEF2)	ENSP00000316950.7:n.*8015G>T
ENST00000341459.7:c.499C>A (SLC24A5)	ENSP00000341550.3:p.Leu167Ile
ENST00000449382.2:c.319C>A (SLC24A5)	ENSP00000389966.2:p.Leu107Ile
ENST00000463289.1:n.259C>A (SLC24A5)
NM_205850.2:c.499C>A (SLC24A5)	NP_995322.1:p.Leu167Ile
XM_011521458.1:c.520C>A (SLC24A5)	XP_011519760.1:p.Leu174Ile
XM_005254425.4:c.*8170G>T (MYEF2)	XP_005254482.2:n.*8170G>T
XM_017022079.1:c.253C>A (SLC24A5)	XP_016877568.1:p.Leu85Ile
XM_017022080.1:c.253C>A (SLC24A5)	XP_016877569.1:p.Leu85Ile
XM_017022285.1:c.*8170G>T (MYEF2)	XP_016877774.1:n.*8170G>T
XM_017022286.1:c.*8170G>T (MYEF2)	XP_016877775.1:n.*8170G>T
XM_017022287.1:c.*8170G>T (MYEF2)	XP_016877776.1:n.*8170G>T
XM_017022291.1:c.*8170G>T (MYEF2)	XP_016877780.1:n.*8170G>T
XM_017022292.1:c.*8170G>T (MYEF2)	XP_016877781.1:n.*8170G>T
XM_024449901.1:c.160C>A (SLC24A5)	XP_024305669.1:p.Leu54Ile
NM_016132.5:c.*8015G>T (MYEF2) MANE Select	NP_057216.3:n.*8015G>T
NM_001301210.2:c.*8015G>T (MYEF2)	NP_001288139.2:n.*8015G>T
NM_205850.3:c.499C>A (SLC24A5) MANE Select	NP_995322.1:p.Leu167Ile