Canonical Allele Identifier: CA6993928

Gene: CNMD

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52703719T>G , CM000675.2:g.52703719T>G	GRCh38
NC_000013.10:g.53277854T>G , CM000675.1:g.53277854T>G	GRCh37
NC_000013.9:g.52175855T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377962.8:c.881A>C MANE Select	ENSP00000367198.3:p.Gln294Pro
ENST00000377962.7:c.881A>C	ENSP00000367198.3:p.Gln294Pro
ENST00000448904.6:c.878A>C	ENSP00000388576.2:p.Gln293Pro
NM_001011705.1:c.878A>C	NP_001011705.1:p.Gln293Pro
NM_007015.2:c.881A>C	NP_008946.1:p.Gln294Pro
XM_006719761.2:c.*57A>C	XP_006719824.2:n.*57A>C
XM_011534897.1:c.974A>C	XP_011533199.1:p.Gln325Pro
XM_011534898.1:c.971A>C	XP_011533200.1:p.Gln324Pro
XM_011534899.1:c.860A>C	XP_011533201.1:p.Gln287Pro
XM_011534900.1:c.848A>C	XP_011533202.1:p.Gln283Pro
XM_011534897.2:c.974A>C	XP_011533199.1:p.Gln325Pro
XM_011534898.2:c.971A>C	XP_011533200.1:p.Gln324Pro
XM_011534899.2:c.860A>C	XP_011533201.1:p.Gln287Pro
XM_011534900.2:c.848A>C	XP_011533202.1:p.Gln283Pro
NM_007015.3:c.881A>C MANE Select	NP_008946.1:p.Gln294Pro
NM_001011705.2:c.878A>C	NP_001011705.1:p.Gln293Pro