Canonical Allele Identifier: CA364951857

Gene: GABRR1

Linked Data

• MyVariant Identifiers: chr6:g.89926965A>T (hg19) ; chr6:g.89217246A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89217246A>T , CM000668.2:g.89217246A>T	GRCh38
NC_000006.11:g.89926965A>T , CM000668.1:g.89926965A>T	GRCh37
NC_000006.10:g.89983684A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000454853.7:c.77T>A MANE Select	ENSP00000412673.2:p.Met26Lys
ENST00000369451.7:c.-239+4029T>A	ENSP00000358463.3:n.-239+4029T>A
ENST00000435811.5:c.77T>A	ENSP00000394687.1:p.Met26Lys
ENST00000454853.6:c.77T>A	ENSP00000412673.2:p.Met26Lys
ENST00000457434.1:c.77T>A	ENSP00000410130.1:p.Met26Lys
ENST00000481493.1:n.16T>A
ENST00000611484.4:c.-287T>A	ENSP00000478846.1:n.-287T>A
ENST00000621627.4:c.-242+4029T>A	ENSP00000481986.1:n.-242+4029T>A
NM_001256703.1:c.77T>A	NP_001243632.1:p.Met26Lys
NM_001256704.1:c.-287T>A	NP_001243633.1:n.-287T>A
NM_001267582.1:c.-242+4029T>A	NP_001254511.1:n.-242+4029T>A
NM_002042.4:c.77T>A	NP_002033.2:p.Met26Lys
XM_006715438.2:c.77T>A	XP_006715501.1:p.Met26Lys
XM_017010689.1:c.-284T>A	XP_016866178.1:n.-284T>A
NM_002042.5:c.77T>A MANE Select	NP_002033.2:p.Met26Lys
NM_001267582.2:c.-242+4029T>A	NP_001254511.1:n.-242+4029T>A