Canonical Allele Identifier: CA356811350

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408755C>T (hg19) ; chr4:g.47406738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406738C>T , CM000666.2:g.47406738C>T	GRCh38
NC_000004.11:g.47408755C>T , CM000666.1:g.47408755C>T	GRCh37
NC_000004.10:g.47103512C>T	NCBI36
NG_051831.1:g.380461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.892C>T MANE Select	ENSP00000295454.3:p.Pro298Ser
ENST00000295454.7:c.892C>T	ENSP00000295454.3:p.Pro298Ser
NM_000812.3:c.892C>T	NP_000803.2:p.Pro298Ser
XM_011513678.1:c.871C>T	XP_011511980.1:p.Pro291Ser
XM_017007985.1:c.241C>T	XP_016863474.1:p.Pro81Ser
XM_024453976.1:c.793C>T	XP_024309744.1:p.Pro265Ser
XM_024453977.1:c.793C>T	XP_024309745.1:p.Pro265Ser
XM_024453978.1:c.793C>T	XP_024309746.1:p.Pro265Ser
NM_000812.4:c.892C>T MANE Select	NP_000803.2:p.Pro298Ser