Canonical Allele Identifier: CA238915038
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs192509433
gnomAD v2: 12-65632110-A-C
gnomAD v3: 12-65238330-A-C
gnomAD v4: 12-65238330-A-C
MyVariant Identifiers: chr12:g.65632110A>C (hg19) chr12:g.65238330A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238330A>C , CM000674.2:g.65238330A>C GRCh38
NC_000012.11:g.65632110A>C , CM000674.1:g.65632110A>C GRCh37
NC_000012.10:g.63918377A>C NCBI36
NG_016210.1:g.73760A>C
NG_016210.2:g.73760A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-172A>C MANE Select ENSP00000308369.2:n.1696-172A>C
ENST00000308330.2:c.1696-172A>C ENSP00000308369.2:n.1696-172A>C
NM_001167614.1:c.1693-172A>C NP_001161086.1:n.1693-172A>C
NM_014319.4:c.1696-172A>C NP_055134.2:n.1696-172A>C
NM_014319.5:c.1696-172A>C MANE Select NP_055134.2:n.1696-172A>C
NM_001167614.2:c.1693-172A>C NP_001161086.1:n.1693-172A>C
Search 100 bp 5'
Search 100 bp 3'