Canonical Allele Identifier: CA4105768

Gene: ERMARD

Linked Data

• ClinVar Variation Id: 382931
• ClinVar RCV Id: RCV000426215
• dbSNP Id: rs566808113
• ExAC: 6:170155395 C / T
• gnomAD v2: 6-170155395-C-T
• gnomAD v3: 6-169755299-C-T
• gnomAD v4: 6-169755299-C-T
• MyVariant Identifiers: chr6:g.170155395C>T (hg19) ; chr6:g.169755299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169755299C>T , CM000668.2:g.169755299C>T	GRCh38
NC_000006.11:g.170155395C>T , CM000668.1:g.170155395C>T	GRCh37
NC_000006.10:g.169897320C>T	NCBI36
NG_033842.1:g.8678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366773.8:c.192C>T MANE Select	ENSP00000355735.3:p.Tyr64=
ENST00000366772.6:c.192C>T	ENSP00000355734.1:p.Tyr64=
ENST00000366773.7:c.192C>T	ENSP00000355735.3:p.Tyr64=
ENST00000392095.8:c.-187C>T	ENSP00000375945.4:n.-187C>T
ENST00000418781.7:c.192C>T	ENSP00000397661.2:p.Tyr64=
ENST00000586341.5:c.192C>T	ENSP00000468124.1:p.Tyr64=
ENST00000588437.5:c.-187C>T	ENSP00000467665.1:n.-187C>T
ENST00000588451.1:c.-187C>T	ENSP00000468240.1:n.-187C>T
ENST00000590017.1:c.129-1039C>T
ENST00000590711.5:c.-187C>T	ENSP00000466474.1:n.-187C>T
ENST00000592315.5:c.187C>T	ENSP00000467582.1:p.Leu63=
ENST00000592367.5:c.-187C>T	ENSP00000468722.1:n.-187C>T
ENST00000592580.5:n.212C>T
ENST00000592745.5:c.-187C>T	ENSP00000466679.1:n.-187C>T
NM_001278531.1:c.192C>T	NP_001265460.1:p.Tyr64=
NM_001278532.1:c.-187C>T	NP_001265461.1:n.-187C>T
NM_001278533.1:c.192C>T	NP_001265462.1:p.Tyr64=
NM_018341.2:c.192C>T	NP_060811.1:p.Tyr64=
XM_011535938.1:c.192C>T	XP_011534240.1:p.Tyr64=
XM_011535939.1:c.-187C>T	XP_011534241.1:n.-187C>T
XM_011535940.1:c.-187C>T	XP_011534242.1:n.-187C>T
XR_942506.1:n.228C>T
XR_942508.1:n.228C>T
XM_011535938.3:c.192C>T	XP_011534240.1:p.Tyr64=
XM_011535939.2:c.-187C>T	XP_011534241.1:n.-187C>T
XM_011535940.2:c.-187C>T	XP_011534242.1:n.-187C>T
XM_017011027.1:c.-89C>T	XP_016866516.1:n.-89C>T
XM_017011028.2:c.-89C>T	XP_016866517.1:n.-89C>T
XM_017011029.1:c.-89C>T	XP_016866518.1:n.-89C>T
XM_017011030.1:c.-89C>T	XP_016866519.1:n.-89C>T
XM_017011031.1:c.-89C>T	XP_016866520.1:n.-89C>T
XM_017011032.1:c.-187C>T	XP_016866521.1:n.-187C>T
XM_017011033.1:c.-187C>T	XP_016866522.1:n.-187C>T
XM_024446486.1:c.-187C>T	XP_024302254.1:n.-187C>T
XM_024446487.1:c.-187C>T	XP_024302255.1:n.-187C>T
XR_942506.2:n.225C>T
XR_942508.3:n.225C>T
NM_018341.3:c.192C>T MANE Select	NP_060811.1:p.Tyr64=
NM_001278531.2:c.192C>T	NP_001265460.1:p.Tyr64=
NM_001278532.2:c.-187C>T	NP_001265461.1:n.-187C>T
NM_001278533.2:c.192C>T	NP_001265462.1:p.Tyr64=