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: CA735541232

Gene:

Linked Data

dbSNP Id: rs1373792188

gnomAD v3: 1-38158483-G-A

gnomAD v4: 1-38158483-G-A

MyVariant Identifiers: chr1:g.38624155G>A (hg19) chr1:g.38158483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158483G>A , CM000663.2:g.38158483G>A	GRCh38
NC_000001.10:g.38624155G>A , CM000663.1:g.38624155G>A	GRCh37
NC_000001.9:g.38396742G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_947202.1:n.45-3210G>A
XR_947203.1:n.61+16769G>A
XR_947204.1:n.45-3210G>A
XR_947205.1:n.45-3210G>A
XR_001737984.1:n.45-3210G>A
XR_001737985.1:n.61+16769G>A
XR_001737986.1:n.45-3210G>A
XR_001737987.1:n.45-3210G>A
XR_002958294.1:n.45-3210G>A
XR_947205.2:n.45-3210G>A

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