Canonical Allele Identifier: CA712270861
Gene: EMC4 HGNC NCBI

Linked Data

dbSNP Id: rs1386270956

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34228368G>T , CM000677.2:g.34228368G>T GRCh38
NC_000015.9:g.34520569G>T , CM000677.1:g.34520569G>T GRCh37
NC_000015.8:g.32307861G>T NCBI36
NG_007951.1:g.114697C>A , LRG_270:g.114697C>A
NG_054746.1:g.8372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267750.9:c.356-61G>T MANE Select ENSP00000267750.4:n.356-61G>T
ENST00000249209.8:c.355+522G>T ENSP00000249209.4:n.355+522G>T
ENST00000267750.8:c.356-61G>T ENSP00000267750.4:n.356-61G>T
ENST00000557879.1:c.*240G>T ENSP00000473881.1:n.*240G>T
ENST00000558102.1:c.*108+522G>T ENSP00000453880.1:n.*108+522G>T
ENST00000558205.5:c.*109-61G>T ENSP00000454042.1:n.*109-61G>T
ENST00000559078.5:c.303+574G>T ENSP00000454052.1:n.303+574G>T
ENST00000559421.1:c.202-1385G>T ENSP00000452672.1:n.202-1385G>T
ENST00000560911.5:c.*109-61G>T ENSP00000453610.1:n.*109-61G>T
ENST00000560947.1:c.153-69G>T
ENST00000561246.1:n.1313+544G>T
NM_001286420.1:c.355+522G>T NP_001273349.1:n.355+522G>T
NM_016454.3:c.356-61G>T NP_057538.1:n.356-61G>T
NM_001351373.1:c.113-61G>T NP_001338302.1:n.113-61G>T
NR_147140.1:n.481+522G>T
NM_016454.4:c.356-61G>T MANE Select NP_057538.1:n.356-61G>T
NM_001286420.2:c.355+522G>T NP_001273349.1:n.355+522G>T
NM_001351373.2:c.113-61G>T NP_001338302.1:n.113-61G>T
NR_147140.2:n.462+522G>T