Canonical Allele Identifier: CA451165938
Gene: GABRR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.89926967T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.89217248T>C , CM000668.2:g.89217248T>C GRCh38
NC_000006.11:g.89926967T>C , CM000668.1:g.89926967T>C GRCh37
NC_000006.10:g.89983686T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000454853.7:c.75A>G MANE Select ENSP00000412673.2:p.Arg25=
ENST00000369451.7:c.-239+4027A>G ENSP00000358463.3:n.-239+4027A>G
ENST00000435811.5:c.75A>G ENSP00000394687.1:p.Arg25=
ENST00000454853.6:c.75A>G ENSP00000412673.2:p.Arg25=
ENST00000457434.1:c.75A>G ENSP00000410130.1:p.Arg25=
ENST00000481493.1:n.14A>G
ENST00000611484.4:c.-289A>G ENSP00000478846.1:n.-289A>G
ENST00000621627.4:c.-242+4027A>G ENSP00000481986.1:n.-242+4027A>G
NM_001256703.1:c.75A>G NP_001243632.1:p.Arg25=
NM_001256704.1:c.-289A>G NP_001243633.1:n.-289A>G
NM_001267582.1:c.-242+4027A>G NP_001254511.1:n.-242+4027A>G
NM_002042.4:c.75A>G NP_002033.2:p.Arg25=
XM_006715438.2:c.75A>G XP_006715501.1:p.Arg25=
XM_017010689.1:c.-286A>G XP_016866178.1:n.-286A>G
NM_002042.5:c.75A>G MANE Select NP_002033.2:p.Arg25=
NM_001267582.2:c.-242+4027A>G NP_001254511.1:n.-242+4027A>G