Canonical Allele Identifier: CA480666228
Gene: LEMD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.65633734G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239954G>A , CM000674.2:g.65239954G>A GRCh38
NC_000012.11:g.65633734G>A , CM000674.1:g.65633734G>A GRCh37
NC_000012.10:g.63920001G>A NCBI36
NG_016210.1:g.75384G>A
NG_016210.2:g.75384G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1947G>A MANE Select ENSP00000308369.2:p.Leu649=
ENST00000308330.2:c.1947G>A ENSP00000308369.2:p.Leu649=
NM_001167614.1:c.1944G>A NP_001161086.1:p.Leu648=
NM_014319.4:c.1947G>A NP_055134.2:p.Leu649=
NM_014319.5:c.1947G>A MANE Select NP_055134.2:p.Leu649=
NM_001167614.2:c.1944G>A NP_001161086.1:p.Leu648=