Canonical Allele Identifier: CA480666108
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1329728691
gnomAD v2: 12-65632455-T-C
gnomAD v3: 12-65238675-T-C
gnomAD v4: 12-65238675-T-C
MyVariant Identifiers: chr12:g.65632455T>C (hg19) chr12:g.65238675T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238675T>C , CM000674.2:g.65238675T>C GRCh38
NC_000012.11:g.65632455T>C , CM000674.1:g.65632455T>C GRCh37
NC_000012.10:g.63918722T>C NCBI36
NG_016210.1:g.74105T>C
NG_016210.2:g.74105T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1782T>C MANE Select ENSP00000308369.2:p.Val594=
ENST00000308330.2:c.1782T>C ENSP00000308369.2:p.Val594=
NM_001167614.1:c.1779T>C NP_001161086.1:p.Val593=
NM_014319.4:c.1782T>C NP_055134.2:p.Val594=
NM_014319.5:c.1782T>C MANE Select NP_055134.2:p.Val594=
NM_001167614.2:c.1779T>C NP_001161086.1:p.Val593=
Search 100 bp 5'
Search 100 bp 3'