Canonical Allele Identifier: CA364951864

Gene: GABRR1

Linked Data

• gnomAD v4: 6-89217249-C-T
• MyVariant Identifiers: chr6:g.89926968C>T (hg19) ; chr6:g.89217249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89217249C>T , CM000668.2:g.89217249C>T	GRCh38
NC_000006.11:g.89926968C>T , CM000668.1:g.89926968C>T	GRCh37
NC_000006.10:g.89983687C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000454853.7:c.74G>A MANE Select	ENSP00000412673.2:p.Arg25Lys
ENST00000369451.7:c.-239+4026G>A	ENSP00000358463.3:n.-239+4026G>A
ENST00000435811.5:c.74G>A	ENSP00000394687.1:p.Arg25Lys
ENST00000454853.6:c.74G>A	ENSP00000412673.2:p.Arg25Lys
ENST00000457434.1:c.74G>A	ENSP00000410130.1:p.Arg25Lys
ENST00000481493.1:n.13G>A
ENST00000611484.4:c.-290G>A	ENSP00000478846.1:n.-290G>A
ENST00000621627.4:c.-242+4026G>A	ENSP00000481986.1:n.-242+4026G>A
NM_001256703.1:c.74G>A	NP_001243632.1:p.Arg25Lys
NM_001256704.1:c.-290G>A	NP_001243633.1:n.-290G>A
NM_001267582.1:c.-242+4026G>A	NP_001254511.1:n.-242+4026G>A
NM_002042.4:c.74G>A	NP_002033.2:p.Arg25Lys
XM_006715438.2:c.74G>A	XP_006715501.1:p.Arg25Lys
XM_017010689.1:c.-287G>A	XP_016866178.1:n.-287G>A
NM_002042.5:c.74G>A MANE Select	NP_002033.2:p.Arg25Lys
NM_001267582.2:c.-242+4026G>A	NP_001254511.1:n.-242+4026G>A