Canonical Allele Identifier: CA391615903

Gene: EMC4

Linked Data

• MyVariant Identifiers: chr15:g.34520633T>A (hg19) ; chr15:g.34228432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228432T>A , CM000677.2:g.34228432T>A	GRCh38
NC_000015.9:g.34520633T>A , CM000677.1:g.34520633T>A	GRCh37
NC_000015.8:g.32307925T>A	NCBI36
NG_007951.1:g.114633A>T , LRG_270:g.114633A>T
NG_054746.1:g.8436T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.359T>A MANE Select	ENSP00000267750.4:p.Phe120Tyr
ENST00000249209.8:c.355+586T>A	ENSP00000249209.4:n.355+586T>A
ENST00000267750.8:c.359T>A	ENSP00000267750.4:p.Phe120Tyr
ENST00000557879.1:c.*304T>A	ENSP00000473881.1:n.*304T>A
ENST00000558102.1:c.*108+586T>A	ENSP00000453880.1:n.*108+586T>A
ENST00000558205.5:c.*112T>A	ENSP00000454042.1:n.*112T>A
ENST00000559078.5:c.304-534T>A	ENSP00000454052.1:n.304-534T>A
ENST00000559421.1:c.202-1321T>A	ENSP00000452672.1:n.202-1321T>A
ENST00000560911.5:c.*112T>A	ENSP00000453610.1:n.*112T>A
ENST00000560947.1:c.153-5T>A
ENST00000561246.1:n.1313+608T>A
NM_001286420.1:c.355+586T>A	NP_001273349.1:n.355+586T>A
NM_016454.3:c.359T>A	NP_057538.1:p.Phe120Tyr
NM_001351373.1:c.116T>A	NP_001338302.1:p.Phe39Tyr
NR_147140.1:n.481+586T>A
NM_016454.4:c.359T>A MANE Select	NP_057538.1:p.Phe120Tyr
NM_001286420.2:c.355+586T>A	NP_001273349.1:n.355+586T>A
NM_001351373.2:c.116T>A	NP_001338302.1:p.Phe39Tyr
NR_147140.2:n.462+586T>A