Canonical Allele Identifier: CA605710066

Gene: LEMD3

Linked Data

• dbSNP Id: rs1317186703
• gnomAD v2: 12-65633814-T-A
• gnomAD v4: 12-65240034-T-A
• MyVariant Identifiers: chr12:g.65633814T>A (hg19) ; chr12:g.65240034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65240034T>A , CM000674.2:g.65240034T>A	GRCh38
NC_000012.11:g.65633814T>A , CM000674.1:g.65633814T>A	GRCh37
NC_000012.10:g.63920081T>A	NCBI36
NG_016210.1:g.75464T>A
NG_016210.2:g.75464T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2023+4T>A MANE Select	ENSP00000308369.2:n.2023+4T>A
ENST00000308330.2:c.2023+4T>A	ENSP00000308369.2:n.2023+4T>A
NM_001167614.1:c.2020+4T>A	NP_001161086.1:n.2020+4T>A
NM_014319.4:c.2023+4T>A	NP_055134.2:n.2023+4T>A
NM_014319.5:c.2023+4T>A MANE Select	NP_055134.2:n.2023+4T>A
NM_001167614.2:c.2020+4T>A	NP_001161086.1:n.2020+4T>A