Canonical Allele Identifier: CA356811267

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408728A>C (hg19) ; chr4:g.47406711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406711A>C , CM000666.2:g.47406711A>C	GRCh38
NC_000004.11:g.47408728A>C , CM000666.1:g.47408728A>C	GRCh37
NC_000004.10:g.47103485A>C	NCBI36
NG_051831.1:g.380434A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.865A>C MANE Select	ENSP00000295454.3:p.Ile289Leu
ENST00000295454.7:c.865A>C	ENSP00000295454.3:p.Ile289Leu
NM_000812.3:c.865A>C	NP_000803.2:p.Ile289Leu
XM_011513678.1:c.844A>C	XP_011511980.1:p.Ile282Leu
XM_017007985.1:c.214A>C	XP_016863474.1:p.Ile72Leu
XM_024453976.1:c.766A>C	XP_024309744.1:p.Ile256Leu
XM_024453977.1:c.766A>C	XP_024309745.1:p.Ile256Leu
XM_024453978.1:c.766A>C	XP_024309746.1:p.Ile256Leu
NM_000812.4:c.865A>C MANE Select	NP_000803.2:p.Ile289Leu