Canonical Allele Identifier: CA385671293

Gene: LEMD3

Linked Data

• MyVariant Identifiers: chr12:g.65632557T>G (hg19) ; chr12:g.65238777T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238777T>G , CM000674.2:g.65238777T>G	GRCh38
NC_000012.11:g.65632557T>G , CM000674.1:g.65632557T>G	GRCh37
NC_000012.10:g.63918824T>G	NCBI36
NG_016210.1:g.74207T>G
NG_016210.2:g.74207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1884T>G MANE Select	ENSP00000308369.2:p.Phe628Leu
ENST00000308330.2:c.1884T>G	ENSP00000308369.2:p.Phe628Leu
NM_001167614.1:c.1881T>G	NP_001161086.1:p.Phe627Leu
NM_014319.4:c.1884T>G	NP_055134.2:p.Phe628Leu
NM_014319.5:c.1884T>G MANE Select	NP_055134.2:p.Phe628Leu
NM_001167614.2:c.1881T>G	NP_001161086.1:p.Phe627Leu