Canonical Allele Identifier: CA356811344

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408753T>C (hg19) ; chr4:g.47406736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406736T>C , CM000666.2:g.47406736T>C	GRCh38
NC_000004.11:g.47408753T>C , CM000666.1:g.47408753T>C	GRCh37
NC_000004.10:g.47103510T>C	NCBI36
NG_051831.1:g.380459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.890T>C MANE Select	ENSP00000295454.3:p.Leu297Pro
ENST00000295454.7:c.890T>C	ENSP00000295454.3:p.Leu297Pro
NM_000812.3:c.890T>C	NP_000803.2:p.Leu297Pro
XM_011513678.1:c.869T>C	XP_011511980.1:p.Leu290Pro
XM_017007985.1:c.239T>C	XP_016863474.1:p.Leu80Pro
XM_024453976.1:c.791T>C	XP_024309744.1:p.Leu264Pro
XM_024453977.1:c.791T>C	XP_024309745.1:p.Leu264Pro
XM_024453978.1:c.791T>C	XP_024309746.1:p.Leu264Pro
NM_000812.4:c.890T>C MANE Select	NP_000803.2:p.Leu297Pro