Canonical Allele Identifier: CA4105708

Gene: ERMARD

Linked Data

• ClinVar Variation Id: 384836
• ClinVar RCV Id: RCV000442041 ; RCV002058946
• dbSNP Id: rs61736820
• ExAC: 6:170153962 A / C
• gnomAD v2: 6-170153962-A-C
• gnomAD v3: 6-169753866-A-C
• gnomAD v4: 6-169753866-A-C
• MyVariant Identifiers: chr6:g.170153962A>C (hg19) ; chr6:g.169753866A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169753866A>C , CM000668.2:g.169753866A>C	GRCh38
NC_000006.11:g.170153962A>C , CM000668.1:g.170153962A>C	GRCh37
NC_000006.10:g.169895887A>C	NCBI36
NG_033842.1:g.7245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366773.8:c.9A>C MANE Select	ENSP00000355735.3:p.Val3=
ENST00000366772.6:c.9A>C	ENSP00000355734.1:p.Val3=
ENST00000366773.7:c.9A>C	ENSP00000355735.3:p.Val3=
ENST00000392095.8:c.-203-1417A>C	ENSP00000375945.4:n.-203-1417A>C
ENST00000418781.7:c.9A>C	ENSP00000397661.2:p.Val3=
ENST00000586341.5:c.9A>C	ENSP00000468124.1:p.Val3=
ENST00000588437.5:c.-370A>C	ENSP00000467665.1:n.-370A>C
ENST00000588451.1:c.-370A>C	ENSP00000468240.1:n.-370A>C
ENST00000590711.5:c.-292-78A>C	ENSP00000466474.1:n.-292-78A>C
ENST00000592315.5:c.9A>C	ENSP00000467582.1:p.Val3=
ENST00000592367.5:c.-365A>C	ENSP00000468722.1:n.-365A>C
ENST00000592580.5:n.29A>C
ENST00000592745.5:c.-370A>C	ENSP00000466679.1:n.-370A>C
NM_001278531.1:c.9A>C	NP_001265460.1:p.Val3=
NM_001278532.1:c.-203-1417A>C	NP_001265461.1:n.-203-1417A>C
NM_001278533.1:c.9A>C	NP_001265462.1:p.Val3=
NM_018341.2:c.9A>C	NP_060811.1:p.Val3=
XM_011535938.1:c.9A>C	XP_011534240.1:p.Val3=
XM_011535939.1:c.-370A>C	XP_011534241.1:n.-370A>C
XM_011535940.1:c.-370A>C	XP_011534242.1:n.-370A>C
XR_942506.1:n.45A>C
XR_942508.1:n.45A>C
XM_011535938.3:c.9A>C	XP_011534240.1:p.Val3=
XM_011535939.2:c.-370A>C	XP_011534241.1:n.-370A>C
XM_011535940.2:c.-370A>C	XP_011534242.1:n.-370A>C
XM_017011027.1:c.-272A>C	XP_016866516.1:n.-272A>C
XM_017011028.2:c.-272A>C	XP_016866517.1:n.-272A>C
XM_017011029.1:c.-272A>C	XP_016866518.1:n.-272A>C
XM_017011030.1:c.-105-1417A>C	XP_016866519.1:n.-105-1417A>C
XM_017011032.1:c.-365A>C	XP_016866521.1:n.-365A>C
XM_017011033.1:c.-365A>C	XP_016866522.1:n.-365A>C
XM_024446486.1:c.-365A>C	XP_024302254.1:n.-365A>C
XM_024446487.1:c.-365A>C	XP_024302255.1:n.-365A>C
XR_942506.2:n.42A>C
XR_942508.3:n.42A>C
NM_018341.3:c.9A>C MANE Select	NP_060811.1:p.Val3=
NM_001278531.2:c.9A>C	NP_001265460.1:p.Val3=
NM_001278532.2:c.-203-1417A>C	NP_001265461.1:n.-203-1417A>C
NM_001278533.2:c.9A>C	NP_001265462.1:p.Val3=