Canonical Allele Identifier: CA2578079454

Gene: GABRB1

Linked Data

• gnomAD v4: 4-47406595-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406595A>G , CM000666.2:g.47406595A>G	GRCh38
NC_000004.11:g.47408612A>G , CM000666.1:g.47408612A>G	GRCh37
NC_000004.10:g.47103369A>G	NCBI36
NG_051831.1:g.380318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-87A>G MANE Select	ENSP00000295454.3:n.836-87A>G
ENST00000295454.7:c.836-87A>G	ENSP00000295454.3:n.836-87A>G
NM_000812.3:c.836-87A>G	NP_000803.2:n.836-87A>G
XM_011513678.1:c.815-87A>G	XP_011511980.1:n.815-87A>G
XM_017007985.1:c.185-87A>G	XP_016863474.1:n.185-87A>G
XM_024453976.1:c.737-87A>G	XP_024309744.1:n.737-87A>G
XM_024453977.1:c.737-87A>G	XP_024309745.1:n.737-87A>G
XM_024453978.1:c.737-87A>G	XP_024309746.1:n.737-87A>G
NM_000812.4:c.836-87A>G MANE Select	NP_000803.2:n.836-87A>G