×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1455086569
Gene: GABRA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.46927521T= , CM000666.2:g.46927521T=
GRCh38
NC_000004.11:g.46929538T= , CM000666.1:g.46929538T=
GRCh37
NC_000004.10:g.46624295T=
NCBI36
NG_011809.1:g.71043A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000264318.4:c.*704A=
MANE Select
ENSP00000264318.3:n.*704A=
ENST00000264318.3:c.*704A=
ENSP00000264318.3:n.*704A=
NM_000809.3:c.*704A=
NP_000800.2:n.*704A=
NM_001204266.1:c.*704A=
NP_001191195.1:n.*704A=
NM_001204267.1:c.*704A=
NP_001191196.1:n.*704A=
XM_011513677.1:c.*704A=
XP_011511979.1:n.*704A=
NM_000809.4:c.*704A=
MANE Select
NP_000800.2:n.*704A=
NM_001204266.2:c.*704A=
NP_001191195.1:n.*704A=
NM_001204267.2:c.*704A=
NP_001191196.1:n.*704A=
Search 100 bp 5'
Search 100 bp 3'