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: CA363568941

Gene: HLA-DRA HGNC NCBI

Linked Data

dbSNP Id: rs1762767990

gnomAD v4: 6-32443797-G-C

MyVariant Identifiers: chr6:g.32411574G>C (hg19) chr6:g.32443797G>C (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32443797G>C , CM000668.2:g.32443797G>C	GRCh38
NC_000006.11:g.32411574G>C , CM000668.1:g.32411574G>C	GRCh37
NC_000006.10:g.32519552G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395388.7:c.652G>C MANE Select	ENSP00000378786.2:p.Val218Leu
ENST00000374982.5:c.577G>C	ENSP00000364121.5:p.Val193Leu
ENST00000395388.6:c.652G>C	ENSP00000378786.2:p.Val218Leu
NM_019111.4:c.652G>C	NP_061984.2:p.Val218Leu
NM_019111.5:c.652G>C MANE Select	NP_061984.2:p.Val218Leu

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