Canonical Allele Identifier: CA268648122

Gene: EMC4

Linked Data

• dbSNP Id: rs1023629344
• gnomAD v4: 15-34228325-C-T
• MyVariant Identifiers: chr15:g.34520526C>T (hg19) ; chr15:g.34228325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228325C>T , CM000677.2:g.34228325C>T	GRCh38
NC_000015.9:g.34520526C>T , CM000677.1:g.34520526C>T	GRCh37
NC_000015.8:g.32307818C>T	NCBI36
NG_007951.1:g.114740G>A , LRG_270:g.114740G>A
NG_054746.1:g.8329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.356-104C>T MANE Select	ENSP00000267750.4:n.356-104C>T
ENST00000249209.8:c.355+479C>T	ENSP00000249209.4:n.355+479C>T
ENST00000267750.8:c.356-104C>T	ENSP00000267750.4:n.356-104C>T
ENST00000557879.1:c.*197C>T	ENSP00000473881.1:n.*197C>T
ENST00000558102.1:c.*108+479C>T	ENSP00000453880.1:n.*108+479C>T
ENST00000558205.5:c.*109-104C>T	ENSP00000454042.1:n.*109-104C>T
ENST00000559078.5:c.303+531C>T	ENSP00000454052.1:n.303+531C>T
ENST00000559421.1:c.202-1428C>T	ENSP00000452672.1:n.202-1428C>T
ENST00000560911.5:c.*109-104C>T	ENSP00000453610.1:n.*109-104C>T
ENST00000560947.1:c.153-112C>T
ENST00000561246.1:n.1313+501C>T
NM_001286420.1:c.355+479C>T	NP_001273349.1:n.355+479C>T
NM_016454.3:c.356-104C>T	NP_057538.1:n.356-104C>T
NM_001351373.1:c.113-104C>T	NP_001338302.1:n.113-104C>T
NR_147140.1:n.481+479C>T
NM_016454.4:c.356-104C>T MANE Select	NP_057538.1:n.356-104C>T
NM_001286420.2:c.355+479C>T	NP_001273349.1:n.355+479C>T
NM_001351373.2:c.113-104C>T	NP_001338302.1:n.113-104C>T
NR_147140.2:n.462+479C>T