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: CA12034610

Gene: DMXL1-DT HGNC NCBI

Linked Data

dbSNP Id: rs111649495

gnomAD v2: 5-118356415-C-T

gnomAD v3: 5-119020720-C-T

gnomAD v4: 5-119020720-C-T

MyVariant Identifiers: chr5:g.118356415C>T (hg19) chr5:g.119020720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119020720C>T , CM000667.2:g.119020720C>T	GRCh38
NC_000005.9:g.118356415C>T , CM000667.1:g.118356415C>T	GRCh37
NC_000005.8:g.118384314C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948700.1:n.61-480G>A
XR_948701.1:n.410-480G>A
XR_948702.1:n.61-480G>A
NR_134249.1:n.122-480G>A
NR_134250.1:n.86-480G>A

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