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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA6671020
Gene: LEMD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310238
ClinVar RCV Id:
RCV001850638
dbSNP Id:
rs374655981
ExAC:
12:65632291 C / T
gnomAD v2:
12-65632291-C-T
gnomAD v3:
12-65238511-C-T
gnomAD v4:
12-65238511-C-T
MyVariant Identifiers:
chr12:g.65632291C>T (hg19)
chr12:g.65238511C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65238511C>T , CM000674.2:g.65238511C>T
GRCh38
NC_000012.11:g.65632291C>T , CM000674.1:g.65632291C>T
GRCh37
NC_000012.10:g.63918558C>T
NCBI36
NG_016210.1:g.73941C>T
NG_016210.2:g.73941C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000308330.3:c.1705C>T
MANE Select
ENSP00000308369.2:p.Pro569Ser
ENST00000308330.2:c.1705C>T
ENSP00000308369.2:p.Pro569Ser
NM_001167614.1:c.1702C>T
NP_001161086.1:p.Pro568Ser
NM_014319.4:c.1705C>T
NP_055134.2:p.Pro569Ser
NM_014319.5:c.1705C>T
MANE Select
NP_055134.2:p.Pro569Ser
NM_001167614.2:c.1702C>T
NP_001161086.1:p.Pro568Ser
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