Canonical Allele Identifier: CA4105683

Gene: ERMARD

Linked Data

• ClinVar Variation Id: 507371
• ClinVar RCV Id: RCV000605306 ; RCV000912441
• dbSNP Id: rs200330797
• ExAC: 6:170151758 A / T
• gnomAD v2: 6-170151758-A-T
• gnomAD v3: 6-169751662-A-T
• gnomAD v4: 6-169751662-A-T
• MyVariant Identifiers: chr6:g.170151758A>T (hg19) ; chr6:g.169751662A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169751662A>T , CM000668.2:g.169751662A>T	GRCh38
NC_000006.11:g.170151758A>T , CM000668.1:g.170151758A>T	GRCh37
NC_000006.10:g.169893683A>T	NCBI36
NG_033842.1:g.5041A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366773.8:c.5A>T MANE Select	ENSP00000355735.3:p.Glu2Val
ENST00000366772.6:c.5A>T	ENSP00000355734.1:p.Glu2Val
ENST00000366773.7:c.5A>T	ENSP00000355735.3:p.Glu2Val
ENST00000392095.8:c.-205A>T	ENSP00000375945.4:n.-205A>T
ENST00000418781.7:c.5A>T	ENSP00000397661.2:p.Glu2Val
ENST00000586341.5:c.5A>T	ENSP00000468124.1:p.Glu2Val
ENST00000588437.5:c.-518A>T	ENSP00000467665.1:n.-518A>T
ENST00000590711.5:c.-294A>T	ENSP00000466474.1:n.-294A>T
ENST00000592315.5:c.5A>T	ENSP00000467582.1:p.Glu2Val
ENST00000592367.5:c.-455A>T	ENSP00000468722.1:n.-455A>T
ENST00000592580.5:n.25A>T
ENST00000592745.5:c.-430A>T	ENSP00000466679.1:n.-430A>T
NM_001278531.1:c.5A>T	NP_001265460.1:p.Glu2Val
NM_001278532.1:c.-205A>T	NP_001265461.1:n.-205A>T
NM_001278533.1:c.5A>T	NP_001265462.1:p.Glu2Val
NM_018341.2:c.5A>T	NP_060811.1:p.Glu2Val
XM_011535938.1:c.5A>T	XP_011534240.1:p.Glu2Val
XR_942506.1:n.41A>T
XR_942508.1:n.41A>T
XM_011535938.3:c.5A>T	XP_011534240.1:p.Glu2Val
XM_017011029.1:c.-276A>T	XP_016866518.1:n.-276A>T
XM_017011030.1:c.-107A>T	XP_016866519.1:n.-107A>T
XM_024446486.1:c.-369A>T	XP_024302254.1:n.-369A>T
XM_024446487.1:c.-369A>T	XP_024302255.1:n.-369A>T
XR_942506.2:n.38A>T
XR_942508.3:n.38A>T
NM_018341.3:c.5A>T MANE Select	NP_060811.1:p.Glu2Val
NM_001278531.2:c.5A>T	NP_001265460.1:p.Glu2Val
NM_001278532.2:c.-205A>T	NP_001265461.1:n.-205A>T
NM_001278533.2:c.5A>T	NP_001265462.1:p.Glu2Val