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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA413309194
Gene: AMER1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2147089575
MyVariant Identifiers:
chrX:g.63412302T>G (hg19)
chrX:g.64192422T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.64192422T>G , CM000685.2:g.64192422T>G
GRCh38
NC_000023.10:g.63412302T>G , CM000685.1:g.63412302T>G
GRCh37
NC_000023.9:g.63329027T>G
NCBI36
NG_021345.1:g.18323A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000374869.8:c.865A>C
MANE Select
ENSP00000364003.4:p.Thr289Pro
ENST00000330258.3:c.865A>C
ENSP00000329117.3:p.Thr289Pro
ENST00000374869.7:c.865A>C
ENSP00000364003.3:p.Thr289Pro
NM_152424.3:c.865A>C
NP_689637.3:p.Thr289Pro
XM_011530858.1:c.865A>C
XP_011529160.1:p.Thr289Pro
NM_152424.4:c.865A>C
MANE Select
NP_689637.3:p.Thr289Pro
Search 100 bp 5'
Search 100 bp 3'