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: CA413438015

Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1057519034

gnomAD v3: X-68839723-C-G

gnomAD v4: X-68839723-C-G

MyVariant Identifiers: chrX:g.68059566C>G (hg19) chrX:g.68839723C>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68839723C>G , CM000685.2:g.68839723C>G	GRCh38
NC_000023.10:g.68059566C>G , CM000685.1:g.68059566C>G	GRCh37
NC_000023.9:g.67976291C>G	NCBI36
NG_008887.1:g.15727C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000204961.5:c.466C>G MANE Select	ENSP00000204961.4:p.Arg156Gly
ENST00000204961.4:c.466C>G	ENSP00000204961.4:p.Arg156Gly
NM_004429.4:c.466C>G	NP_004420.1:p.Arg156Gly
NM_004429.5:c.466C>G MANE Select	NP_004420.1:p.Arg156Gly

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