Canonical Allele Identifier: CA6671054
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs760112650
ExAC: 12:65632507 C / A
gnomAD v2: 12-65632507-C-A
gnomAD v4: 12-65238727-C-A
MyVariant Identifiers: chr12:g.65632507C>A (hg19) chr12:g.65238727C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238727C>A , CM000674.2:g.65238727C>A GRCh38
NC_000012.11:g.65632507C>A , CM000674.1:g.65632507C>A GRCh37
NC_000012.10:g.63918774C>A NCBI36
NG_016210.1:g.74157C>A
NG_016210.2:g.74157C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1834C>A MANE Select ENSP00000308369.2:p.Gln612Lys
ENST00000308330.2:c.1834C>A ENSP00000308369.2:p.Gln612Lys
NM_001167614.1:c.1831C>A NP_001161086.1:p.Gln611Lys
NM_014319.4:c.1834C>A NP_055134.2:p.Gln612Lys
NM_014319.5:c.1834C>A MANE Select NP_055134.2:p.Gln612Lys
NM_001167614.2:c.1831C>A NP_001161086.1:p.Gln611Lys
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