Canonical Allele Identifier: CA385673350
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1868471959
gnomAD v4: 12-65170095-T-C
MyVariant Identifiers: chr12:g.65563875T>C (hg19) chr12:g.65170095T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170095T>C , CM000674.2:g.65170095T>C GRCh38
NC_000012.11:g.65563875T>C , CM000674.1:g.65563875T>C GRCh37
NC_000012.10:g.63850142T>C NCBI36
NG_016210.1:g.5525T>C
NG_016210.2:g.5525T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.499T>C MANE Select ENSP00000308369.2:p.Tyr167His
ENST00000308330.2:c.499T>C ENSP00000308369.2:p.Tyr167His
ENST00000541171.1:n.513T>C
NM_001167614.1:c.499T>C NP_001161086.1:p.Tyr167His
NM_014319.4:c.499T>C NP_055134.2:p.Tyr167His
NM_014319.5:c.499T>C MANE Select NP_055134.2:p.Tyr167His
NM_001167614.2:c.499T>C NP_001161086.1:p.Tyr167His
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