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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:
CA413309168
Gene: AMER1
HGNC
NCBI
Linked Data
dbSNP Id:
rs774922675
MyVariant Identifiers:
chrX:g.63412296C>A (hg19)
chrX:g.64192416C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.64192416C>A , CM000685.2:g.64192416C>A
GRCh38
NC_000023.10:g.63412296C>A , CM000685.1:g.63412296C>A
GRCh37
NC_000023.9:g.63329021C>A
NCBI36
NG_021345.1:g.18329G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000374869.8:c.871G>T
MANE Select
ENSP00000364003.4:p.Glu291Ter
ENST00000330258.3:c.871G>T
ENSP00000329117.3:p.Glu291Ter
ENST00000374869.7:c.871G>T
ENSP00000364003.3:p.Glu291Ter
NM_152424.3:c.871G>T
NP_689637.3:p.Glu291Ter
XM_011530858.1:c.871G>T
XP_011529160.1:p.Glu291Ter
NM_152424.4:c.871G>T
MANE Select
NP_689637.3:p.Glu291Ter
Search 100 bp 5'
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