Canonical Allele Identifier: CA605710084

Gene: LEMD3

Linked Data

• dbSNP Id: rs1177638243
• gnomAD v2: 12-65639748-T-G
• MyVariant Identifiers: chr12:g.65639748T>G (hg19) ; chr12:g.65245968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65245968T>G , CM000674.2:g.65245968T>G	GRCh38
NC_000012.11:g.65639748T>G , CM000674.1:g.65639748T>G	GRCh37
NC_000012.10:g.63926015T>G	NCBI36
NG_016210.1:g.81398T>G
NG_016210.2:g.81398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2572+29T>G MANE Select	ENSP00000308369.2:n.2572+29T>G
ENST00000308330.2:c.2572+29T>G	ENSP00000308369.2:n.2572+29T>G
ENST00000539442.1:n.554+29T>G
ENST00000544506.1:n.292+29T>G
ENST00000545026.1:n.390+29T>G
NM_001167614.1:c.2569+29T>G	NP_001161086.1:n.2569+29T>G
NM_014319.4:c.2572+29T>G	NP_055134.2:n.2572+29T>G
NM_014319.5:c.2572+29T>G MANE Select	NP_055134.2:n.2572+29T>G
NM_001167614.2:c.2569+29T>G	NP_001161086.1:n.2569+29T>G