Canonical Allele Identifier: CA2578079472

Gene: GABRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47407017A>T , CM000666.2:g.47407017A>T	GRCh38
NC_000004.11:g.47409034A>T , CM000666.1:g.47409034A>T	GRCh37
NC_000004.10:g.47103791A>T	NCBI36
NG_051831.1:g.380740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+91A>T MANE Select	ENSP00000295454.3:n.1080+91A>T
ENST00000295454.7:c.1080+91A>T	ENSP00000295454.3:n.1080+91A>T
NM_000812.3:c.1080+91A>T	NP_000803.2:n.1080+91A>T
XM_011513678.1:c.1059+91A>T	XP_011511980.1:n.1059+91A>T
XM_017007985.1:c.429+91A>T	XP_016863474.1:n.429+91A>T
XM_024453976.1:c.981+91A>T	XP_024309744.1:n.981+91A>T
XM_024453977.1:c.981+91A>T	XP_024309745.1:n.981+91A>T
XM_024453978.1:c.981+91A>T	XP_024309746.1:n.981+91A>T
NM_000812.4:c.1080+91A>T MANE Select	NP_000803.2:n.1080+91A>T