Canonical Allele Identifier: CA948625816
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1871095060
gnomAD v3: 12-65246058-G-T
gnomAD v4: 12-65246058-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246058G>T , CM000674.2:g.65246058G>T GRCh38
NC_000012.11:g.65639838G>T , CM000674.1:g.65639838G>T GRCh37
NC_000012.10:g.63926105G>T NCBI36
NG_016210.1:g.81488G>T
NG_016210.2:g.81488G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2573-104G>T MANE Select ENSP00000308369.2:n.2573-104G>T
ENST00000308330.2:c.2573-104G>T ENSP00000308369.2:n.2573-104G>T
ENST00000539442.1:n.555-104G>T
ENST00000544506.1:n.293-104G>T
ENST00000545026.1:n.391-104G>T
NM_001167614.1:c.2570-104G>T NP_001161086.1:n.2570-104G>T
NM_014319.4:c.2573-104G>T NP_055134.2:n.2573-104G>T
NM_014319.5:c.2573-104G>T MANE Select NP_055134.2:n.2573-104G>T
NM_001167614.2:c.2570-104G>T NP_001161086.1:n.2570-104G>T
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