Canonical Allele Identifier: CA948616022

Gene: LEMD3

Linked Data

• dbSNP Id: rs1869134674
• gnomAD v3: 12-65188458-A-T
• gnomAD v4: 12-65188458-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65188458A>T , CM000674.2:g.65188458A>T	GRCh38
NC_000012.11:g.65582238A>T , CM000674.1:g.65582238A>T	GRCh37
NC_000012.10:g.63868505A>T	NCBI36
NG_016210.1:g.23888A>T
NG_016210.2:g.23888A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000308330.3:c.1522+17340A>T MANE Select	ENSP00000308369.2:n.1522+17340A>T
ENST00000308330.2:c.1522+17340A>T	ENSP00000308369.2:n.1522+17340A>T
ENST00000541171.1:n.836+18040A>T
NM_001167614.1:c.1522+17340A>T	NP_001161086.1:n.1522+17340A>T
NM_014319.4:c.1522+17340A>T	NP_055134.2:n.1522+17340A>T
NM_014319.5:c.1522+17340A>T MANE Select	NP_055134.2:n.1522+17340A>T
NM_001167614.2:c.1522+17340A>T	NP_001161086.1:n.1522+17340A>T