Canonical Allele Identifier: CA391615908

Gene: EMC4

Linked Data

• MyVariant Identifiers: chr15:g.34520635A>T (hg19) ; chr15:g.34228434A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228434A>T , CM000677.2:g.34228434A>T	GRCh38
NC_000015.9:g.34520635A>T , CM000677.1:g.34520635A>T	GRCh37
NC_000015.8:g.32307927A>T	NCBI36
NG_007951.1:g.114631T>A , LRG_270:g.114631T>A
NG_054746.1:g.8438A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.361A>T MANE Select	ENSP00000267750.4:p.Lys121Ter
ENST00000249209.8:c.355+588A>T	ENSP00000249209.4:n.355+588A>T
ENST00000267750.8:c.361A>T	ENSP00000267750.4:p.Lys121Ter
ENST00000557879.1:c.*306A>T	ENSP00000473881.1:n.*306A>T
ENST00000558102.1:c.*108+588A>T	ENSP00000453880.1:n.*108+588A>T
ENST00000558205.5:c.*114A>T	ENSP00000454042.1:n.*114A>T
ENST00000559078.5:c.304-532A>T	ENSP00000454052.1:n.304-532A>T
ENST00000559421.1:c.202-1319A>T	ENSP00000452672.1:n.202-1319A>T
ENST00000560911.5:c.*114A>T	ENSP00000453610.1:n.*114A>T
ENST00000560947.1:c.153-3A>T
ENST00000561246.1:n.1313+610A>T
NM_001286420.1:c.355+588A>T	NP_001273349.1:n.355+588A>T
NM_016454.3:c.361A>T	NP_057538.1:p.Lys121Ter
NM_001351373.1:c.118A>T	NP_001338302.1:p.Lys40Ter
NR_147140.1:n.481+588A>T
NM_016454.4:c.361A>T MANE Select	NP_057538.1:p.Lys121Ter
NM_001286420.2:c.355+588A>T	NP_001273349.1:n.355+588A>T
NM_001351373.2:c.118A>T	NP_001338302.1:p.Lys40Ter
NR_147140.2:n.462+588A>T