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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:
CA351533968
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2416776
ClinVar RCV Id:
RCV003109027
gnomAD v4:
3-14125200-G-A
MyVariant Identifiers:
chr3:g.14166700G>A (hg19)
chr3:g.14125200G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14125200G>A , CM000665.2:g.14125200G>A
GRCh38
NC_000003.11:g.14166700G>A , CM000665.1:g.14166700G>A
GRCh37
NC_000003.10:g.14141701G>A
NCBI36
NG_008975.1:g.5261G>A , LRG_435:g.5261G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000432444.2:c.7G>A
ENSP00000395617.1:p.Ala3Thr
ENST00000306077.5:c.7G>A
MANE Select
ENSP00000303992.5:p.Ala3Thr
ENST00000306077.4:c.7G>A
ENSP00000303992.4:p.Ala3Thr
ENST00000432444.1:c.7G>A
ENSP00000395617.1:p.Ala3Thr
NM_024334.2:c.7G>A , LRG_435t1:c.7G>A
NP_077310.1:p.Ala3Thr
XM_017007176.2:c.-330G>A
XP_016862665.1:n.-330G>A
NM_024334.3:c.7G>A
MANE Select
NP_077310.1:p.Ala3Thr
Search 100 bp 5'
Search 100 bp 3'