Canonical Allele Identifier: CA356811250

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408720T>G (hg19) ; chr4:g.47406703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406703T>G , CM000666.2:g.47406703T>G	GRCh38
NC_000004.11:g.47408720T>G , CM000666.1:g.47408720T>G	GRCh37
NC_000004.10:g.47103477T>G	NCBI36
NG_051831.1:g.380426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.857T>G MANE Select	ENSP00000295454.3:p.Met286Arg
ENST00000295454.7:c.857T>G	ENSP00000295454.3:p.Met286Arg
NM_000812.3:c.857T>G	NP_000803.2:p.Met286Arg
XM_011513678.1:c.836T>G	XP_011511980.1:p.Met279Arg
XM_017007985.1:c.206T>G	XP_016863474.1:p.Met69Arg
XM_024453976.1:c.758T>G	XP_024309744.1:p.Met253Arg
XM_024453977.1:c.758T>G	XP_024309745.1:p.Met253Arg
XM_024453978.1:c.758T>G	XP_024309746.1:p.Met253Arg
NM_000812.4:c.857T>G MANE Select	NP_000803.2:p.Met286Arg