Canonical Allele Identifier: CA2705333468

Gene: GABRB1

Linked Data

• dbSNP Id: rs7435958

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47158992G>T , CM000666.2:g.47158992G>T	GRCh38
NC_000004.11:g.47161009G>T , CM000666.1:g.47161009G>T	GRCh37
NC_000004.10:g.46855766G>T	NCBI36
NG_051831.1:g.132715G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.241-2257G>T MANE Select	ENSP00000295454.3:n.241-2257G>T
ENST00000295454.7:c.241-2257G>T	ENSP00000295454.3:n.241-2257G>T
ENST00000510909.1:c.173-2257G>T	ENSP00000426766.1:n.173-2257G>T
ENST00000513567.5:c.142-2257G>T	ENSP00000426753.1:n.142-2257G>T
NM_000812.3:c.241-2257G>T	NP_000803.2:n.241-2257G>T
XM_011513678.1:c.220-2257G>T	XP_011511980.1:n.220-2257G>T
XM_017007986.2:c.241-2257G>T	XP_016863475.1:n.241-2257G>T
XM_024453976.1:c.142-2257G>T	XP_024309744.1:n.142-2257G>T
XM_024453977.1:c.142-2257G>T	XP_024309745.1:n.142-2257G>T
XM_024453978.1:c.142-2257G>T	XP_024309746.1:n.142-2257G>T
NM_000812.4:c.241-2257G>T MANE Select	NP_000803.2:n.241-2257G>T