Canonical Allele Identifier: CA385676577

Gene: LEMD3

Linked Data

• MyVariant Identifiers: chr12:g.65639999A>T (hg19) ; chr12:g.65246219A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246219A>T , CM000674.2:g.65246219A>T	GRCh38
NC_000012.11:g.65639999A>T , CM000674.1:g.65639999A>T	GRCh37
NC_000012.10:g.63926266A>T	NCBI36
NG_016210.1:g.81649A>T
NG_016210.2:g.81649A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2630A>T MANE Select	ENSP00000308369.2:p.Gln877Leu
ENST00000308330.2:c.2630A>T	ENSP00000308369.2:p.Gln877Leu
ENST00000539442.1:n.612A>T
ENST00000544506.1:n.350A>T
ENST00000545026.1:n.448A>T
NM_001167614.1:c.2627A>T	NP_001161086.1:p.Gln876Leu
NM_014319.4:c.2630A>T	NP_055134.2:p.Gln877Leu
NM_014319.5:c.2630A>T MANE Select	NP_055134.2:p.Gln877Leu
NM_001167614.2:c.2627A>T	NP_001161086.1:p.Gln876Leu