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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:
CA413308789
Gene: AMER1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1353677522
MyVariant Identifiers:
chrX:g.63412198A>T (hg19)
chrX:g.64192318A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.64192318A>T , CM000685.2:g.64192318A>T
GRCh38
NC_000023.10:g.63412198A>T , CM000685.1:g.63412198A>T
GRCh37
NC_000023.9:g.63328923A>T
NCBI36
NG_021345.1:g.18427T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000374869.8:c.969T>A
MANE Select
ENSP00000364003.4:p.Asp323Glu
ENST00000330258.3:c.969T>A
ENSP00000329117.3:p.Asp323Glu
ENST00000374869.7:c.969T>A
ENSP00000364003.3:p.Asp323Glu
NM_152424.3:c.969T>A
NP_689637.3:p.Asp323Glu
XM_011530858.1:c.969T>A
XP_011529160.1:p.Asp323Glu
NM_152424.4:c.969T>A
MANE Select
NP_689637.3:p.Asp323Glu
Search 100 bp 5'
Search 100 bp 3'