Canonical Allele Identifier: CA385673402

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65170120-C-T
• MyVariant Identifiers: chr12:g.65563900C>T (hg19) ; chr12:g.65170120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65170120C>T , CM000674.2:g.65170120C>T	GRCh38
NC_000012.11:g.65563900C>T , CM000674.1:g.65563900C>T	GRCh37
NC_000012.10:g.63850167C>T	NCBI36
NG_016210.1:g.5550C>T
NG_016210.2:g.5550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.524C>T MANE Select	ENSP00000308369.2:p.Ala175Val
ENST00000308330.2:c.524C>T	ENSP00000308369.2:p.Ala175Val
ENST00000541171.1:n.538C>T
NM_001167614.1:c.524C>T	NP_001161086.1:p.Ala175Val
NM_014319.4:c.524C>T	NP_055134.2:p.Ala175Val
NM_014319.5:c.524C>T MANE Select	NP_055134.2:p.Ala175Val
NM_001167614.2:c.524C>T	NP_001161086.1:p.Ala175Val