Canonical Allele Identifier: CA480743091

Gene: LEMD3

Linked Data

• dbSNP Id: rs1290434318
• gnomAD v4: 12-65169983-C-T
• MyVariant Identifiers: chr12:g.65563763C>T (hg19) ; chr12:g.65169983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65169983C>T , CM000674.2:g.65169983C>T	GRCh38
NC_000012.11:g.65563763C>T , CM000674.1:g.65563763C>T	GRCh37
NC_000012.10:g.63850030C>T	NCBI36
NG_016210.1:g.5413C>T
NG_016210.2:g.5413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.387C>T MANE Select	ENSP00000308369.2:p.Pro129=
ENST00000308330.2:c.387C>T	ENSP00000308369.2:p.Pro129=
ENST00000541171.1:n.401C>T
NM_001167614.1:c.387C>T	NP_001161086.1:p.Pro129=
NM_014319.4:c.387C>T	NP_055134.2:p.Pro129=
NM_014319.5:c.387C>T MANE Select	NP_055134.2:p.Pro129=
NM_001167614.2:c.387C>T	NP_001161086.1:p.Pro129=