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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:
CA413308795
Gene: AMER1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2147089332
COSMIC:
COSM6474648
COSM6474649
MyVariant Identifiers:
chrX:g.63412200C>T (hg19)
chrX:g.64192320C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.64192320C>T , CM000685.2:g.64192320C>T
GRCh38
NC_000023.10:g.63412200C>T , CM000685.1:g.63412200C>T
GRCh37
NC_000023.9:g.63328925C>T
NCBI36
NG_021345.1:g.18425G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000374869.8:c.967G>A
MANE Select
ENSP00000364003.4:p.Asp323Asn
ENST00000330258.3:c.967G>A
ENSP00000329117.3:p.Asp323Asn
ENST00000374869.7:c.967G>A
ENSP00000364003.3:p.Asp323Asn
NM_152424.3:c.967G>A
NP_689637.3:p.Asp323Asn
XM_011530858.1:c.967G>A
XP_011529160.1:p.Asp323Asn
NM_152424.4:c.967G>A
MANE Select
NP_689637.3:p.Asp323Asn
Search 100 bp 5'
Search 100 bp 3'