Canonical Allele Identifier: CA356811490

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408786T>C (hg19) ; chr4:g.47406769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406769T>C , CM000666.2:g.47406769T>C	GRCh38
NC_000004.11:g.47408786T>C , CM000666.1:g.47408786T>C	GRCh37
NC_000004.10:g.47103543T>C	NCBI36
NG_051831.1:g.380492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.923T>C MANE Select	ENSP00000295454.3:p.Ile308Thr
ENST00000295454.7:c.923T>C	ENSP00000295454.3:p.Ile308Thr
NM_000812.3:c.923T>C	NP_000803.2:p.Ile308Thr
XM_011513678.1:c.902T>C	XP_011511980.1:p.Ile301Thr
XM_017007985.1:c.272T>C	XP_016863474.1:p.Ile91Thr
XM_024453976.1:c.824T>C	XP_024309744.1:p.Ile275Thr
XM_024453977.1:c.824T>C	XP_024309745.1:p.Ile275Thr
XM_024453978.1:c.824T>C	XP_024309746.1:p.Ile275Thr
NM_000812.4:c.923T>C MANE Select	NP_000803.2:p.Ile308Thr