Canonical Allele Identifier: CA3920004
Gene: GABRR1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1186902

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.89217243T>C , CM000668.2:g.89217243T>C GRCh38
NC_000006.10:g.89983681T>C NCBI36
NC_000006.11:g.89926962T>C , CM000668.1:g.89926962T>C GRCh37

Transcript Alleles

HGVS Amino-acid change
ENST00000369451.7:c.-239+4032A>G ENSP00000358463.3:p.=
ENST00000435811.5:c.80A>G ENSP00000394687.1:p.His27Arg
ENST00000454853.6:c.80A>G ENSP00000412673.2:p.His27Arg
ENST00000457434.1:c.80A>G ENSP00000410130.1:p.His27Arg
ENST00000481493.1:n.19A>G
ENST00000611484.4:c.-284A>G ENSP00000478846.1:p.=
ENST00000621627.4:c.-242+4032A>G ENSP00000481986.1:p.=
NM_001256703.1:c.80A>G VV NP_001243632.1:p.His27Arg
NM_001256704.1:c.-284A>G VV NP_001243633.1:p.=
NM_001267582.1:c.-242+4032A>G VV NP_001254511.1:p.=
NM_002042.4:c.80A>G VV NP_002033.2:p.His27Arg
XM_006715438.2:n.80A>G XP_006715501.1:p.His27Arg