Canonical Allele Identifier: CA1455320760

Gene: GABRB1

Linked Data

• dbSNP Id: rs1728598271
• gnomAD v4: 4-47407019-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47407019A>T , CM000666.2:g.47407019A>T	GRCh38
NC_000004.11:g.47409036A>T , CM000666.1:g.47409036A>T	GRCh37
NC_000004.10:g.47103793A>T	NCBI36
NG_051831.1:g.380742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+93A>T MANE Select	ENSP00000295454.3:n.1080+93A>T
ENST00000295454.7:c.1080+93A>T	ENSP00000295454.3:n.1080+93A>T
NM_000812.3:c.1080+93A>T	NP_000803.2:n.1080+93A>T
XM_011513678.1:c.1059+93A>T	XP_011511980.1:n.1059+93A>T
XM_017007985.1:c.429+93A>T	XP_016863474.1:n.429+93A>T
XM_024453976.1:c.981+93A>T	XP_024309744.1:n.981+93A>T
XM_024453977.1:c.981+93A>T	XP_024309745.1:n.981+93A>T
XM_024453978.1:c.981+93A>T	XP_024309746.1:n.981+93A>T
NM_000812.4:c.1080+93A>T MANE Select	NP_000803.2:n.1080+93A>T