Canonical Allele Identifier: CA385671125
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65238699-G-T
MyVariant Identifiers: chr12:g.65632479G>T (hg19) chr12:g.65238699G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238699G>T , CM000674.2:g.65238699G>T GRCh38
NC_000012.11:g.65632479G>T , CM000674.1:g.65632479G>T GRCh37
NC_000012.10:g.63918746G>T NCBI36
NG_016210.1:g.74129G>T
NG_016210.2:g.74129G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1806G>T MANE Select ENSP00000308369.2:p.Leu602Phe
ENST00000308330.2:c.1806G>T ENSP00000308369.2:p.Leu602Phe
NM_001167614.1:c.1803G>T NP_001161086.1:p.Leu601Phe
NM_014319.4:c.1806G>T NP_055134.2:p.Leu602Phe
NM_014319.5:c.1806G>T MANE Select NP_055134.2:p.Leu602Phe
NM_001167614.2:c.1803G>T NP_001161086.1:p.Leu601Phe
Search 100 bp 5'
Search 100 bp 3'