Canonical Allele Identifier: CA385673480
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170158-G-C
MyVariant Identifiers: chr12:g.65563938G>C (hg19) chr12:g.65170158G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170158G>C , CM000674.2:g.65170158G>C GRCh38
NC_000012.11:g.65563938G>C , CM000674.1:g.65563938G>C GRCh37
NC_000012.10:g.63850205G>C NCBI36
NG_016210.1:g.5588G>C
NG_016210.2:g.5588G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.562G>C MANE Select ENSP00000308369.2:p.Ala188Pro
ENST00000308330.2:c.562G>C ENSP00000308369.2:p.Ala188Pro
ENST00000541171.1:n.576G>C
NM_001167614.1:c.562G>C NP_001161086.1:p.Ala188Pro
NM_014319.4:c.562G>C NP_055134.2:p.Ala188Pro
NM_014319.5:c.562G>C MANE Select NP_055134.2:p.Ala188Pro
NM_001167614.2:c.562G>C NP_001161086.1:p.Ala188Pro
Search 100 bp 5'
Search 100 bp 3'