Canonical Allele Identifier: CA142904991

Gene: GABRR1

Linked Data

• dbSNP Id: rs907783866
• gnomAD v2: 6-89926972-T-C
• gnomAD v3: 6-89217253-T-C
• gnomAD v4: 6-89217253-T-C
• MyVariant Identifiers: chr6:g.89926972T>C (hg19) ; chr6:g.89217253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89217253T>C , CM000668.2:g.89217253T>C	GRCh38
NC_000006.11:g.89926972T>C , CM000668.1:g.89926972T>C	GRCh37
NC_000006.10:g.89983691T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000454853.7:c.70A>G MANE Select	ENSP00000412673.2:p.Ser24Gly
ENST00000369451.7:c.-239+4022A>G	ENSP00000358463.3:n.-239+4022A>G
ENST00000435811.5:c.70A>G	ENSP00000394687.1:p.Ser24Gly
ENST00000454853.6:c.70A>G	ENSP00000412673.2:p.Ser24Gly
ENST00000457434.1:c.70A>G	ENSP00000410130.1:p.Ser24Gly
ENST00000481493.1:n.9A>G
ENST00000611484.4:c.-294A>G	ENSP00000478846.1:n.-294A>G
ENST00000621627.4:c.-242+4022A>G	ENSP00000481986.1:n.-242+4022A>G
NM_001256703.1:c.70A>G	NP_001243632.1:p.Ser24Gly
NM_001256704.1:c.-294A>G	NP_001243633.1:n.-294A>G
NM_001267582.1:c.-242+4022A>G	NP_001254511.1:n.-242+4022A>G
NM_002042.4:c.70A>G	NP_002033.2:p.Ser24Gly
XM_006715438.2:c.70A>G	XP_006715501.1:p.Ser24Gly
XM_017010689.1:c.-291A>G	XP_016866178.1:n.-291A>G
NM_002042.5:c.70A>G MANE Select	NP_002033.2:p.Ser24Gly
NM_001267582.2:c.-242+4022A>G	NP_001254511.1:n.-242+4022A>G