Canonical Allele Identifier: CA385671169
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65238720-G-C
MyVariant Identifiers: chr12:g.65632500G>C (hg19) chr12:g.65238720G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238720G>C , CM000674.2:g.65238720G>C GRCh38
NC_000012.11:g.65632500G>C , CM000674.1:g.65632500G>C GRCh37
NC_000012.10:g.63918767G>C NCBI36
NG_016210.1:g.74150G>C
NG_016210.2:g.74150G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1827G>C MANE Select ENSP00000308369.2:p.Gln609His
ENST00000308330.2:c.1827G>C ENSP00000308369.2:p.Gln609His
NM_001167614.1:c.1824G>C NP_001161086.1:p.Gln608His
NM_014319.4:c.1827G>C NP_055134.2:p.Gln609His
NM_014319.5:c.1827G>C MANE Select NP_055134.2:p.Gln609His
NM_001167614.2:c.1824G>C NP_001161086.1:p.Gln608His
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