Canonical Allele Identifier: CA480666283

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65240164-C-T
• MyVariant Identifiers: chr12:g.65633944C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65240164C>T , CM000674.2:g.65240164C>T	GRCh38
NC_000012.11:g.65633944C>T , CM000674.1:g.65633944C>T	GRCh37
NC_000012.10:g.63920211C>T	NCBI36
NG_016210.1:g.75594C>T
NG_016210.2:g.75594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2052C>T MANE Select	ENSP00000308369.2:p.Cys684=
ENST00000308330.2:c.2052C>T	ENSP00000308369.2:p.Cys684=
NM_001167614.1:c.2049C>T	NP_001161086.1:p.Cys683=
NM_014319.4:c.2052C>T	NP_055134.2:p.Cys684=
NM_014319.5:c.2052C>T MANE Select	NP_055134.2:p.Cys684=
NM_001167614.2:c.2049C>T	NP_001161086.1:p.Cys683=