Canonical Allele Identifier: CA391616040

Gene: EMC4

Linked Data

• MyVariant Identifiers: chr15:g.34520692A>G (hg19) ; chr15:g.34228491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228491A>G , CM000677.2:g.34228491A>G	GRCh38
NC_000015.9:g.34520692A>G , CM000677.1:g.34520692A>G	GRCh37
NC_000015.8:g.32307984A>G	NCBI36
NG_007951.1:g.114574T>C , LRG_270:g.114574T>C
NG_054746.1:g.8495A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267750.9:c.418A>G MANE Select	ENSP00000267750.4:p.Asn140Asp
ENST00000249209.8:c.355+645A>G	ENSP00000249209.4:n.355+645A>G
ENST00000267750.8:c.418A>G	ENSP00000267750.4:p.Asn140Asp
ENST00000557879.1:c.*363A>G	ENSP00000473881.1:n.*363A>G
ENST00000558102.1:c.*108+645A>G	ENSP00000453880.1:n.*108+645A>G
ENST00000558205.5:c.*171A>G	ENSP00000454042.1:n.*171A>G
ENST00000559078.5:c.304-475A>G	ENSP00000454052.1:n.304-475A>G
ENST00000559421.1:c.202-1262A>G	ENSP00000452672.1:n.202-1262A>G
ENST00000560911.5:c.*171A>G	ENSP00000453610.1:n.*171A>G
ENST00000560947.1:c.207A>G
ENST00000561246.1:n.1313+667A>G
NM_001286420.1:c.355+645A>G	NP_001273349.1:n.355+645A>G
NM_016454.3:c.418A>G	NP_057538.1:p.Asn140Asp
NM_001351373.1:c.175A>G	NP_001338302.1:p.Asn59Asp
NR_147140.1:n.481+645A>G
NM_016454.4:c.418A>G MANE Select	NP_057538.1:p.Asn140Asp
NM_001286420.2:c.355+645A>G	NP_001273349.1:n.355+645A>G
NM_001351373.2:c.175A>G	NP_001338302.1:p.Asn59Asp
NR_147140.2:n.462+645A>G