Canonical Allele Identifier: CA361010263

Gene: CAMLG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134750912C>G , CM000667.2:g.134750912C>G	GRCh38
NC_000005.9:g.134086602C>G , CM000667.1:g.134086602C>G	GRCh37
NC_000005.8:g.134114501C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297156.4:c.853C>G MANE Select	ENSP00000297156.2:p.His285Asp
ENST00000676819.1:n.3247C>G
ENST00000676829.1:c.*149C>G	ENSP00000503328.1:n.*149C>G
ENST00000676928.1:n.267C>G
ENST00000677273.1:c.*149C>G	ENSP00000503312.1:n.*149C>G
ENST00000677966.1:n.4463C>G
ENST00000678771.1:c.850C>G	ENSP00000504018.1:p.His284Asp
ENST00000297156.3:c.853C>G	ENSP00000297156.2:p.His285Asp
ENST00000514518.1:c.*149C>G	ENSP00000427331.1:n.*149C>G
NM_001745.3:c.853C>G	NP_001736.1:p.His285Asp
XM_011543653.1:c.787C>G	XP_011541955.1:p.His263Asp
NM_001745.4:c.853C>G MANE Select	NP_001736.1:p.His285Asp