Canonical Allele Identifier: CA385671234
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65238749-C-G
MyVariant Identifiers: chr12:g.65632529C>G (hg19) chr12:g.65238749C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238749C>G , CM000674.2:g.65238749C>G GRCh38
NC_000012.11:g.65632529C>G , CM000674.1:g.65632529C>G GRCh37
NC_000012.10:g.63918796C>G NCBI36
NG_016210.1:g.74179C>G
NG_016210.2:g.74179C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1856C>G MANE Select ENSP00000308369.2:p.Ser619Cys
ENST00000308330.2:c.1856C>G ENSP00000308369.2:p.Ser619Cys
NM_001167614.1:c.1853C>G NP_001161086.1:p.Ser618Cys
NM_014319.4:c.1856C>G NP_055134.2:p.Ser619Cys
NM_014319.5:c.1856C>G MANE Select NP_055134.2:p.Ser619Cys
NM_001167614.2:c.1853C>G NP_001161086.1:p.Ser618Cys
Search 100 bp 5'
Search 100 bp 3'