Canonical Allele Identifier: CA3920004
Gene: GABRR1 HGNC NCBI

Linked Data

dbSNP Id: rs1186902
gnomAD v2: 6-89926962-T-C
gnomAD v3: 6-89217243-T-C
gnomAD v4: 6-89217243-T-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000454853.7:c.80A>G MANE Select ENSP00000412673.2:p.His27Arg
ENST00000369451.7:c.-239+4032A>G ENSP00000358463.3:n.-239+4032A>G
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:n.-284A>G
ENST00000621627.4:c.-242+4032A>G ENSP00000481986.1:n.-242+4032A>G
NM_001256703.1:c.80A>G NP_001243632.1:p.His27Arg
NM_001256704.1:c.-284A>G NP_001243633.1:n.-284A>G
NM_001267582.1:c.-242+4032A>G NP_001254511.1:n.-242+4032A>G
NM_002042.4:c.80A>G NP_002033.2:p.His27Arg
XM_006715438.2:c.80A>G XP_006715501.1:p.His27Arg
XM_017010689.1:c.-281A>G XP_016866178.1:n.-281A>G
NM_002042.5:c.80A>G MANE Select NP_002033.2:p.His27Arg
NM_001267582.2:c.-242+4032A>G NP_001254511.1:n.-242+4032A>G