Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA248850351

Gene: LHFPL6 HGNC NCBI

Linked Data

dbSNP Id: rs938209106

MyVariant Identifiers: chr13:g.39903161A>G (hg19) chr13:g.39329024A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39329024A>G , CM000675.2:g.39329024A>G	GRCh38
NC_000013.10:g.39903161A>G , CM000675.1:g.39903161A>G	GRCh37
NC_000013.9:g.38801161A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000648377.1:c.*82+14830T>C	ENSP00000496801.1:n.*82+14830T>C
XR_001749845.1:n.1449+7247T>C

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