Canonical Allele Identifier: CA385676515

Gene: LEMD3

Linked Data

• COSMIC: COSM5703139
• MyVariant Identifiers: chr12:g.65639985C>A (hg19) ; chr12:g.65246205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246205C>A , CM000674.2:g.65246205C>A	GRCh38
NC_000012.11:g.65639985C>A , CM000674.1:g.65639985C>A	GRCh37
NC_000012.10:g.63926252C>A	NCBI36
NG_016210.1:g.81635C>A
NG_016210.2:g.81635C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2616C>A MANE Select	ENSP00000308369.2:p.His872Gln
ENST00000308330.2:c.2616C>A	ENSP00000308369.2:p.His872Gln
ENST00000539442.1:n.598C>A
ENST00000544506.1:n.336C>A
ENST00000545026.1:n.434C>A
NM_001167614.1:c.2613C>A	NP_001161086.1:p.His871Gln
NM_014319.4:c.2616C>A	NP_055134.2:p.His872Gln
NM_014319.5:c.2616C>A MANE Select	NP_055134.2:p.His872Gln
NM_001167614.2:c.2613C>A	NP_001161086.1:p.His871Gln