Canonical Allele Identifier: CA15300113

Gene: GABRB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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