Allele Registry

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.

Canonical Allele Identifier: CA433675975

Gene: ACTL11P HGNC NCBI

Linked Data

dbSNP Id: rs2108338732

gnomAD v4: 3-49873734-A-G

MyVariant Identifiers: chr3:g.49911167A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49873734A>G , CM000665.2:g.49873734A>G	GRCh38
NC_000003.11:g.49911167A>G , CM000665.1:g.49911167A>G	GRCh37
NC_000003.10:g.49886171A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000423971.2:n.3572T>C
ENST00000423971.1:n.4247T>C

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