Canonical Allele Identifier: CA364951869

Gene: GABRR1

Linked Data

• MyVariant Identifiers: chr6:g.89926971C>A (hg19) ; chr6:g.89217252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89217252C>A , CM000668.2:g.89217252C>A	GRCh38
NC_000006.11:g.89926971C>A , CM000668.1:g.89926971C>A	GRCh37
NC_000006.10:g.89983690C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000454853.7:c.71G>T MANE Select	ENSP00000412673.2:p.Ser24Ile
ENST00000369451.7:c.-239+4023G>T	ENSP00000358463.3:n.-239+4023G>T
ENST00000435811.5:c.71G>T	ENSP00000394687.1:p.Ser24Ile
ENST00000454853.6:c.71G>T	ENSP00000412673.2:p.Ser24Ile
ENST00000457434.1:c.71G>T	ENSP00000410130.1:p.Ser24Ile
ENST00000481493.1:n.10G>T
ENST00000611484.4:c.-293G>T	ENSP00000478846.1:n.-293G>T
ENST00000621627.4:c.-242+4023G>T	ENSP00000481986.1:n.-242+4023G>T
NM_001256703.1:c.71G>T	NP_001243632.1:p.Ser24Ile
NM_001256704.1:c.-293G>T	NP_001243633.1:n.-293G>T
NM_001267582.1:c.-242+4023G>T	NP_001254511.1:n.-242+4023G>T
NM_002042.4:c.71G>T	NP_002033.2:p.Ser24Ile
XM_006715438.2:c.71G>T	XP_006715501.1:p.Ser24Ile
XM_017010689.1:c.-290G>T	XP_016866178.1:n.-290G>T
NM_002042.5:c.71G>T MANE Select	NP_002033.2:p.Ser24Ile
NM_001267582.2:c.-242+4023G>T	NP_001254511.1:n.-242+4023G>T