Canonical Allele Identifier: CA2761320714

Gene: GABRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406989G>C , CM000666.2:g.47406989G>C	GRCh38
NC_000004.11:g.47409006G>C , CM000666.1:g.47409006G>C	GRCh37
NC_000004.10:g.47103763G>C	NCBI36
NG_051831.1:g.380712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+63G>C MANE Select	ENSP00000295454.3:n.1080+63G>C
ENST00000295454.7:c.1080+63G>C	ENSP00000295454.3:n.1080+63G>C
NM_000812.3:c.1080+63G>C	NP_000803.2:n.1080+63G>C
XM_011513678.1:c.1059+63G>C	XP_011511980.1:n.1059+63G>C
XM_017007985.1:c.429+63G>C	XP_016863474.1:n.429+63G>C
XM_024453976.1:c.981+63G>C	XP_024309744.1:n.981+63G>C
XM_024453977.1:c.981+63G>C	XP_024309745.1:n.981+63G>C
XM_024453978.1:c.981+63G>C	XP_024309746.1:n.981+63G>C
NM_000812.4:c.1080+63G>C MANE Select	NP_000803.2:n.1080+63G>C