Canonical Allele Identifier: CA356811254

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408721G>T (hg19) ; chr4:g.47406704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406704G>T , CM000666.2:g.47406704G>T	GRCh38
NC_000004.11:g.47408721G>T , CM000666.1:g.47408721G>T	GRCh37
NC_000004.10:g.47103478G>T	NCBI36
NG_051831.1:g.380427G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.858G>T MANE Select	ENSP00000295454.3:p.Met286Ile
ENST00000295454.7:c.858G>T	ENSP00000295454.3:p.Met286Ile
NM_000812.3:c.858G>T	NP_000803.2:p.Met286Ile
XM_011513678.1:c.837G>T	XP_011511980.1:p.Met279Ile
XM_017007985.1:c.207G>T	XP_016863474.1:p.Met69Ile
XM_024453976.1:c.759G>T	XP_024309744.1:p.Met253Ile
XM_024453977.1:c.759G>T	XP_024309745.1:p.Met253Ile
XM_024453978.1:c.759G>T	XP_024309746.1:p.Met253Ile
NM_000812.4:c.858G>T MANE Select	NP_000803.2:p.Met286Ile