Canonical Allele Identifier: CA385673477

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65170156-C-G
• MyVariant Identifiers: chr12:g.65563936C>G (hg19) ; chr12:g.65170156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65170156C>G , CM000674.2:g.65170156C>G	GRCh38
NC_000012.11:g.65563936C>G , CM000674.1:g.65563936C>G	GRCh37
NC_000012.10:g.63850203C>G	NCBI36
NG_016210.1:g.5586C>G
NG_016210.2:g.5586C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.560C>G MANE Select	ENSP00000308369.2:p.Ser187Cys
ENST00000308330.2:c.560C>G	ENSP00000308369.2:p.Ser187Cys
ENST00000541171.1:n.574C>G
NM_001167614.1:c.560C>G	NP_001161086.1:p.Ser187Cys
NM_014319.4:c.560C>G	NP_055134.2:p.Ser187Cys
NM_014319.5:c.560C>G MANE Select	NP_055134.2:p.Ser187Cys
NM_001167614.2:c.560C>G	NP_001161086.1:p.Ser187Cys