Canonical Allele Identifier: CA2517774772

Gene: GABRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406570G>A , CM000666.2:g.47406570G>A	GRCh38
NC_000004.11:g.47408587G>A , CM000666.1:g.47408587G>A	GRCh37
NC_000004.10:g.47103344G>A	NCBI36
NG_051831.1:g.380293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-112G>A MANE Select	ENSP00000295454.3:n.836-112G>A
ENST00000295454.7:c.836-112G>A	ENSP00000295454.3:n.836-112G>A
NM_000812.3:c.836-112G>A	NP_000803.2:n.836-112G>A
XM_011513678.1:c.815-112G>A	XP_011511980.1:n.815-112G>A
XM_017007985.1:c.185-112G>A	XP_016863474.1:n.185-112G>A
XM_024453976.1:c.737-112G>A	XP_024309744.1:n.737-112G>A
XM_024453977.1:c.737-112G>A	XP_024309745.1:n.737-112G>A
XM_024453978.1:c.737-112G>A	XP_024309746.1:n.737-112G>A
NM_000812.4:c.836-112G>A MANE Select	NP_000803.2:n.836-112G>A