Canonical Allele Identifier: CA605710092

Gene: LEMD3

Linked Data

• dbSNP Id: rs1330973496
• gnomAD v2: 12-65639918-A-T
• gnomAD v4: 12-65246138-A-T
• MyVariant Identifiers: chr12:g.65639918A>T (hg19) ; chr12:g.65246138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246138A>T , CM000674.2:g.65246138A>T	GRCh38
NC_000012.11:g.65639918A>T , CM000674.1:g.65639918A>T	GRCh37
NC_000012.10:g.63926185A>T	NCBI36
NG_016210.1:g.81568A>T
NG_016210.2:g.81568A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2573-24A>T MANE Select	ENSP00000308369.2:n.2573-24A>T
ENST00000308330.2:c.2573-24A>T	ENSP00000308369.2:n.2573-24A>T
ENST00000539442.1:n.555-24A>T
ENST00000544506.1:n.293-24A>T
ENST00000545026.1:n.391-24A>T
NM_001167614.1:c.2570-24A>T	NP_001161086.1:n.2570-24A>T
NM_014319.4:c.2573-24A>T	NP_055134.2:n.2573-24A>T
NM_014319.5:c.2573-24A>T MANE Select	NP_055134.2:n.2573-24A>T
NM_001167614.2:c.2570-24A>T	NP_001161086.1:n.2570-24A>T