Canonical Allele Identifier: CA385673543
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170186-G-C
MyVariant Identifiers: chr12:g.65563966G>C (hg19) chr12:g.65170186G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170186G>C , CM000674.2:g.65170186G>C GRCh38
NC_000012.11:g.65563966G>C , CM000674.1:g.65563966G>C GRCh37
NC_000012.10:g.63850233G>C NCBI36
NG_016210.1:g.5616G>C
NG_016210.2:g.5616G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.590G>C MANE Select ENSP00000308369.2:p.Trp197Ser
ENST00000308330.2:c.590G>C ENSP00000308369.2:p.Trp197Ser
ENST00000541171.1:n.604G>C
NM_001167614.1:c.590G>C NP_001161086.1:p.Trp197Ser
NM_014319.4:c.590G>C NP_055134.2:p.Trp197Ser
NM_014319.5:c.590G>C MANE Select NP_055134.2:p.Trp197Ser
NM_001167614.2:c.590G>C NP_001161086.1:p.Trp197Ser
Search 100 bp 5'
Search 100 bp 3'