Canonical Allele Identifier: CA356811605

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408812G>C (hg19) ; chr4:g.47406795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406795G>C , CM000666.2:g.47406795G>C	GRCh38
NC_000004.11:g.47408812G>C , CM000666.1:g.47408812G>C	GRCh37
NC_000004.10:g.47103569G>C	NCBI36
NG_051831.1:g.380518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.949G>C MANE Select	ENSP00000295454.3:p.Val317Leu
ENST00000295454.7:c.949G>C	ENSP00000295454.3:p.Val317Leu
NM_000812.3:c.949G>C	NP_000803.2:p.Val317Leu
XM_011513678.1:c.928G>C	XP_011511980.1:p.Val310Leu
XM_017007985.1:c.298G>C	XP_016863474.1:p.Val100Leu
XM_024453976.1:c.850G>C	XP_024309744.1:p.Val284Leu
XM_024453977.1:c.850G>C	XP_024309745.1:p.Val284Leu
XM_024453978.1:c.850G>C	XP_024309746.1:p.Val284Leu
NM_000812.4:c.949G>C MANE Select	NP_000803.2:p.Val317Leu