Canonical Allele Identifier: CA2575668076

Gene: EMC4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228346T>C , CM000677.2:g.34228346T>C	GRCh38
NC_000015.9:g.34520547T>C , CM000677.1:g.34520547T>C	GRCh37
NC_000015.8:g.32307839T>C	NCBI36
NG_007951.1:g.114719A>G , LRG_270:g.114719A>G
NG_054746.1:g.8350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.356-83T>C MANE Select	ENSP00000267750.4:n.356-83T>C
ENST00000249209.8:c.355+500T>C	ENSP00000249209.4:n.355+500T>C
ENST00000267750.8:c.356-83T>C	ENSP00000267750.4:n.356-83T>C
ENST00000557879.1:c.*218T>C	ENSP00000473881.1:n.*218T>C
ENST00000558102.1:c.*108+500T>C	ENSP00000453880.1:n.*108+500T>C
ENST00000558205.5:c.*109-83T>C	ENSP00000454042.1:n.*109-83T>C
ENST00000559078.5:c.303+552T>C	ENSP00000454052.1:n.303+552T>C
ENST00000559421.1:c.202-1407T>C	ENSP00000452672.1:n.202-1407T>C
ENST00000560911.5:c.*109-83T>C	ENSP00000453610.1:n.*109-83T>C
ENST00000560947.1:c.153-91T>C
ENST00000561246.1:n.1313+522T>C
NM_001286420.1:c.355+500T>C	NP_001273349.1:n.355+500T>C
NM_016454.3:c.356-83T>C	NP_057538.1:n.356-83T>C
NM_001351373.1:c.113-83T>C	NP_001338302.1:n.113-83T>C
NR_147140.1:n.481+500T>C
NM_016454.4:c.356-83T>C MANE Select	NP_057538.1:n.356-83T>C
NM_001286420.2:c.355+500T>C	NP_001273349.1:n.355+500T>C
NM_001351373.2:c.113-83T>C	NP_001338302.1:n.113-83T>C
NR_147140.2:n.462+500T>C