Canonical Allele Identifier: CA2619670666
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65246412-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246412T>C , CM000674.2:g.65246412T>C GRCh38
NC_000012.11:g.65640192T>C , CM000674.1:g.65640192T>C GRCh37
NC_000012.10:g.63926459T>C NCBI36
NG_016210.1:g.81842T>C
NG_016210.2:g.81842T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*87T>C MANE Select ENSP00000308369.2:n.*87T>C
ENST00000308330.2:c.*87T>C ENSP00000308369.2:n.*87T>C
ENST00000539442.1:n.805T>C
NM_001167614.1:c.*87T>C NP_001161086.1:n.*87T>C
NM_014319.4:c.*87T>C NP_055134.2:n.*87T>C
NM_014319.5:c.*87T>C MANE Select NP_055134.2:n.*87T>C
NM_001167614.2:c.*87T>C NP_001161086.1:n.*87T>C
Search 100 bp 5'
Search 100 bp 3'