Canonical Allele Identifier: CA385671916
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1870882305
gnomAD v4: 12-65239977-C-A
MyVariant Identifiers: chr12:g.65633757C>A (hg19) chr12:g.65239977C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239977C>A , CM000674.2:g.65239977C>A GRCh38
NC_000012.11:g.65633757C>A , CM000674.1:g.65633757C>A GRCh37
NC_000012.10:g.63920024C>A NCBI36
NG_016210.1:g.75407C>A
NG_016210.2:g.75407C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1970C>A MANE Select ENSP00000308369.2:p.Thr657Lys
ENST00000308330.2:c.1970C>A ENSP00000308369.2:p.Thr657Lys
NM_001167614.1:c.1967C>A NP_001161086.1:p.Thr656Lys
NM_014319.4:c.1970C>A NP_055134.2:p.Thr657Lys
NM_014319.5:c.1970C>A MANE Select NP_055134.2:p.Thr657Lys
NM_001167614.2:c.1967C>A NP_001161086.1:p.Thr656Lys
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