Canonical Allele Identifier: CA356811271

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408729T>G (hg19) ; chr4:g.47406712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406712T>G , CM000666.2:g.47406712T>G	GRCh38
NC_000004.11:g.47408729T>G , CM000666.1:g.47408729T>G	GRCh37
NC_000004.10:g.47103486T>G	NCBI36
NG_051831.1:g.380435T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.866T>G MANE Select	ENSP00000295454.3:p.Ile289Ser
ENST00000295454.7:c.866T>G	ENSP00000295454.3:p.Ile289Ser
NM_000812.3:c.866T>G	NP_000803.2:p.Ile289Ser
XM_011513678.1:c.845T>G	XP_011511980.1:p.Ile282Ser
XM_017007985.1:c.215T>G	XP_016863474.1:p.Ile72Ser
XM_024453976.1:c.767T>G	XP_024309744.1:p.Ile256Ser
XM_024453977.1:c.767T>G	XP_024309745.1:p.Ile256Ser
XM_024453978.1:c.767T>G	XP_024309746.1:p.Ile256Ser
NM_000812.4:c.866T>G MANE Select	NP_000803.2:p.Ile289Ser