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.

ClinGen Allele Registry

Canonical Allele Identifier: CA537990

Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2677649

ClinVar RCV Id: RCV003476783

dbSNP Id: rs61752096

ExAC: 1:2337954 C / T

gnomAD v2: 1-2337954-C-T

gnomAD v4: 1-2406515-C-T

MyVariant Identifiers: chr1:g.2337954C>T (hg19) chr1:g.2406515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406515C>T , CM000663.2:g.2406515C>T	GRCh38
NC_000001.10:g.2337954C>T , CM000663.1:g.2337954C>T	GRCh37
NC_000001.9:g.2327814C>T	NCBI36
NG_008342.1:g.11057G>A
NG_016128.1:g.19741C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.941G>A	ENSP00000288774.3:p.Trp314Ter
ENST00000447513.7:c.881G>A MANE Select	ENSP00000407922.2:p.Trp294Ter
ENST00000650293.1:c.835G>A
ENST00000288774.7:c.941G>A	ENSP00000288774.3:p.Trp314Ter
ENST00000447513.6:c.881G>A	ENSP00000407922.2:p.Trp294Ter
ENST00000507596.5:c.881G>A	ENSP00000424291.1:p.Trp294Ter
NM_002617.3:c.881G>A	NP_002608.1:p.Trp294Ter
NM_153818.1:c.941G>A	NP_722540.1:p.Trp314Ter
XM_011541573.1:c.938G>A	XP_011539875.1:p.Trp313Ter
XM_011541574.1:c.506G>A	XP_011539876.1:p.Trp169Ter
XM_011541575.1:c.506G>A	XP_011539877.1:p.Trp169Ter
XR_946666.1:n.997G>A
XR_946666.2:n.946G>A
NM_001374425.1:c.938G>A	NP_001361354.1:p.Trp313Ter
NM_001374426.1:c.506G>A	NP_001361355.1:p.Trp169Ter
NM_001374427.1:c.449G>A	NP_001361356.1:p.Trp150Ter
NM_002617.4:c.881G>A MANE Select	NP_002608.1:p.Trp294Ter
NM_153818.2:c.941G>A	NP_722540.1:p.Trp314Ter
NR_164636.1:n.996G>A