Canonical Allele Identifier: CA385673518
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170176C>T , CM000674.2:g.65170176C>T GRCh38
NC_000012.11:g.65563956C>T , CM000674.1:g.65563956C>T GRCh37
NC_000012.10:g.63850223C>T NCBI36
NG_016210.1:g.5606C>T
NG_016210.2:g.5606C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.580C>T MANE Select ENSP00000308369.2:p.His194Tyr
ENST00000308330.2:c.580C>T ENSP00000308369.2:p.His194Tyr
ENST00000541171.1:n.594C>T
NM_001167614.1:c.580C>T NP_001161086.1:p.His194Tyr
NM_014319.4:c.580C>T NP_055134.2:p.His194Tyr
NM_014319.5:c.580C>T MANE Select NP_055134.2:p.His194Tyr
NM_001167614.2:c.580C>T NP_001161086.1:p.His194Tyr