Canonical Allele Identifier: CA4105777

Gene: ERMARD

Linked Data

• ClinVar Variation Id: 386574
• ClinVar RCV Id: RCV000432020 ; RCV000884634
• dbSNP Id: rs61735516
• ExAC: 6:170155460 C / A
• gnomAD v2: 6-170155460-C-A
• gnomAD v3: 6-169755364-C-A
• gnomAD v4: 6-169755364-C-A
• MyVariant Identifiers: chr6:g.170155460C>A (hg19) ; chr6:g.169755364C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169755364C>A , CM000668.2:g.169755364C>A	GRCh38
NC_000006.11:g.170155460C>A , CM000668.1:g.170155460C>A	GRCh37
NC_000006.10:g.169897385C>A	NCBI36
NG_033842.1:g.8743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366773.8:c.257C>A MANE Select	ENSP00000355735.3:p.Thr86Asn
ENST00000366772.6:c.257C>A	ENSP00000355734.1:p.Thr86Asn
ENST00000366773.7:c.257C>A	ENSP00000355735.3:p.Thr86Asn
ENST00000392095.8:c.-122C>A	ENSP00000375945.4:n.-122C>A
ENST00000418781.7:c.257C>A	ENSP00000397661.2:p.Thr86Asn
ENST00000586341.5:c.257C>A	ENSP00000468124.1:p.Thr86Asn
ENST00000588437.5:c.-122C>A	ENSP00000467665.1:n.-122C>A
ENST00000588451.1:c.-122C>A	ENSP00000468240.1:n.-122C>A
ENST00000590017.1:c.129-974C>A
ENST00000590711.5:c.-122C>A	ENSP00000466474.1:n.-122C>A
ENST00000592315.5:c.*30C>A	ENSP00000467582.1:n.*30C>A
ENST00000592367.5:c.-122C>A	ENSP00000468722.1:n.-122C>A
ENST00000592580.5:n.277C>A
ENST00000592745.5:c.-122C>A	ENSP00000466679.1:n.-122C>A
NM_001278531.1:c.257C>A	NP_001265460.1:p.Thr86Asn
NM_001278532.1:c.-122C>A	NP_001265461.1:n.-122C>A
NM_001278533.1:c.257C>A	NP_001265462.1:p.Thr86Asn
NM_018341.2:c.257C>A	NP_060811.1:p.Thr86Asn
XM_011535938.1:c.257C>A	XP_011534240.1:p.Thr86Asn
XM_011535939.1:c.-122C>A	XP_011534241.1:n.-122C>A
XM_011535940.1:c.-122C>A	XP_011534242.1:n.-122C>A
XR_942506.1:n.293C>A
XR_942508.1:n.293C>A
XM_011535938.3:c.257C>A	XP_011534240.1:p.Thr86Asn
XM_011535939.2:c.-122C>A	XP_011534241.1:n.-122C>A
XM_011535940.2:c.-122C>A	XP_011534242.1:n.-122C>A
XM_017011027.1:c.-24C>A	XP_016866516.1:n.-24C>A
XM_017011028.2:c.-24C>A	XP_016866517.1:n.-24C>A
XM_017011029.1:c.-24C>A	XP_016866518.1:n.-24C>A
XM_017011030.1:c.-24C>A	XP_016866519.1:n.-24C>A
XM_017011031.1:c.-24C>A	XP_016866520.1:n.-24C>A
XM_017011032.1:c.-122C>A	XP_016866521.1:n.-122C>A
XM_017011033.1:c.-122C>A	XP_016866522.1:n.-122C>A
XM_024446486.1:c.-122C>A	XP_024302254.1:n.-122C>A
XM_024446487.1:c.-122C>A	XP_024302255.1:n.-122C>A
XR_942506.2:n.290C>A
XR_942508.3:n.290C>A
NM_018341.3:c.257C>A MANE Select	NP_060811.1:p.Thr86Asn
NM_001278531.2:c.257C>A	NP_001265460.1:p.Thr86Asn
NM_001278532.2:c.-122C>A	NP_001265461.1:n.-122C>A
NM_001278533.2:c.257C>A	NP_001265462.1:p.Thr86Asn