Canonical Allele Identifier: CA356811268

Gene: GABRB1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.865A>T MANE Select	ENSP00000295454.3:p.Ile289Phe
ENST00000295454.7:c.865A>T	ENSP00000295454.3:p.Ile289Phe
NM_000812.3:c.865A>T	NP_000803.2:p.Ile289Phe
XM_011513678.1:c.844A>T	XP_011511980.1:p.Ile282Phe
XM_017007985.1:c.214A>T	XP_016863474.1:p.Ile72Phe
XM_024453976.1:c.766A>T	XP_024309744.1:p.Ile256Phe
XM_024453977.1:c.766A>T	XP_024309745.1:p.Ile256Phe
XM_024453978.1:c.766A>T	XP_024309746.1:p.Ile256Phe
NM_000812.4:c.865A>T MANE Select	NP_000803.2:p.Ile289Phe