Canonical Allele Identifier: CA385671245
Gene: LEMD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.65632534T>C (hg19) chr12:g.65238754T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238754T>C , CM000674.2:g.65238754T>C GRCh38
NC_000012.11:g.65632534T>C , CM000674.1:g.65632534T>C GRCh37
NC_000012.10:g.63918801T>C NCBI36
NG_016210.1:g.74184T>C
NG_016210.2:g.74184T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1861T>C MANE Select ENSP00000308369.2:p.Trp621Arg
ENST00000308330.2:c.1861T>C ENSP00000308369.2:p.Trp621Arg
NM_001167614.1:c.1858T>C NP_001161086.1:p.Trp620Arg
NM_014319.4:c.1861T>C NP_055134.2:p.Trp621Arg
NM_014319.5:c.1861T>C MANE Select NP_055134.2:p.Trp621Arg
NM_001167614.2:c.1858T>C NP_001161086.1:p.Trp620Arg
Search 100 bp 5'
Search 100 bp 3'