Canonical Allele Identifier: CA6994055

Gene: CNMD

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52724019T>C , CM000675.2:g.52724019T>C	GRCh38
NC_000013.10:g.53298154T>C , CM000675.1:g.53298154T>C	GRCh37
NC_000013.9:g.52196155T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007015.3:c.446A>G MANE Select	NP_008946.1:p.Lys149Arg
ENST00000377962.8:c.446A>G MANE Select	ENSP00000367198.3:p.Lys149Arg
NM_001011705.1:c.446A>G	NP_001011705.1:p.Lys149Arg
NM_001011705.2:c.446A>G	NP_001011705.1:p.Lys149Arg
NM_007015.2:c.446A>G	NP_008946.1:p.Lys149Arg
ENST00000377962.7:c.446A>G	ENSP00000367198.3:p.Lys149Arg
ENST00000431550.1:c.212A>G	ENSP00000396035.1:p.Lys71Arg
ENST00000448904.6:c.446A>G	ENSP00000388576.2:p.Lys149Arg
XM_006719761.2:c.527A>G	XP_006719824.2:p.Lys176Arg
XM_011534897.1:c.527A>G	XP_011533199.1:p.Lys176Arg
XM_011534897.2:c.527A>G	XP_011533199.1:p.Lys176Arg
XM_011534898.1:c.527A>G	XP_011533200.1:p.Lys176Arg
XM_011534898.2:c.527A>G	XP_011533200.1:p.Lys176Arg
XM_011534899.1:c.435+9200A>G	XP_011533201.1:n.435+9200A>G
XM_011534899.2:c.435+9200A>G	XP_011533201.1:n.435+9200A>G
XM_011534900.1:c.435+9200A>G	XP_011533202.1:n.435+9200A>G
XM_011534900.2:c.435+9200A>G	XP_011533202.1:n.435+9200A>G