Canonical Allele Identifier: CA391615898

Gene: EMC4

Linked Data

• MyVariant Identifiers: chr15:g.34520630C>G (hg19) ; chr15:g.34228429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228429C>G , CM000677.2:g.34228429C>G	GRCh38
NC_000015.9:g.34520630C>G , CM000677.1:g.34520630C>G	GRCh37
NC_000015.8:g.32307922C>G	NCBI36
NG_007951.1:g.114636G>C , LRG_270:g.114636G>C
NG_054746.1:g.8433C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267750.9:c.356C>G MANE Select	ENSP00000267750.4:p.Thr119Ser
ENST00000249209.8:c.355+583C>G	ENSP00000249209.4:n.355+583C>G
ENST00000267750.8:c.356C>G	ENSP00000267750.4:p.Thr119Ser
ENST00000557879.1:c.*301C>G	ENSP00000473881.1:n.*301C>G
ENST00000558102.1:c.*108+583C>G	ENSP00000453880.1:n.*108+583C>G
ENST00000558205.5:c.*109C>G	ENSP00000454042.1:n.*109C>G
ENST00000559078.5:c.304-537C>G	ENSP00000454052.1:n.304-537C>G
ENST00000559421.1:c.202-1324C>G	ENSP00000452672.1:n.202-1324C>G
ENST00000560911.5:c.*109C>G	ENSP00000453610.1:n.*109C>G
ENST00000560947.1:c.153-8C>G
ENST00000561246.1:n.1313+605C>G
NM_001286420.1:c.355+583C>G	NP_001273349.1:n.355+583C>G
NM_016454.3:c.356C>G	NP_057538.1:p.Thr119Ser
NM_001351373.1:c.113C>G	NP_001338302.1:p.Thr38Ser
NR_147140.1:n.481+583C>G
NM_016454.4:c.356C>G MANE Select	NP_057538.1:p.Thr119Ser
NM_001286420.2:c.355+583C>G	NP_001273349.1:n.355+583C>G
NM_001351373.2:c.113C>G	NP_001338302.1:p.Thr38Ser
NR_147140.2:n.462+583C>G