Canonical Allele Identifier: CA2575668069

Gene: EMC4

Linked Data

• gnomAD v4: 15-34228329-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228329C>T , CM000677.2:g.34228329C>T	GRCh38
NC_000015.9:g.34520530C>T , CM000677.1:g.34520530C>T	GRCh37
NC_000015.8:g.32307822C>T	NCBI36
NG_007951.1:g.114736G>A , LRG_270:g.114736G>A
NG_054746.1:g.8333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.356-100C>T MANE Select	ENSP00000267750.4:n.356-100C>T
ENST00000249209.8:c.355+483C>T	ENSP00000249209.4:n.355+483C>T
ENST00000267750.8:c.356-100C>T	ENSP00000267750.4:n.356-100C>T
ENST00000557879.1:c.*201C>T	ENSP00000473881.1:n.*201C>T
ENST00000558102.1:c.*108+483C>T	ENSP00000453880.1:n.*108+483C>T
ENST00000558205.5:c.*109-100C>T	ENSP00000454042.1:n.*109-100C>T
ENST00000559078.5:c.303+535C>T	ENSP00000454052.1:n.303+535C>T
ENST00000559421.1:c.202-1424C>T	ENSP00000452672.1:n.202-1424C>T
ENST00000560911.5:c.*109-100C>T	ENSP00000453610.1:n.*109-100C>T
ENST00000560947.1:c.153-108C>T
ENST00000561246.1:n.1313+505C>T
NM_001286420.1:c.355+483C>T	NP_001273349.1:n.355+483C>T
NM_016454.3:c.356-100C>T	NP_057538.1:n.356-100C>T
NM_001351373.1:c.113-100C>T	NP_001338302.1:n.113-100C>T
NR_147140.1:n.481+483C>T
NM_016454.4:c.356-100C>T MANE Select	NP_057538.1:n.356-100C>T
NM_001286420.2:c.355+483C>T	NP_001273349.1:n.355+483C>T
NM_001351373.2:c.113-100C>T	NP_001338302.1:n.113-100C>T
NR_147140.2:n.462+483C>T