Canonical Allele Identifier: CA439245926
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408937A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406920A>G , CM000666.2:g.47406920A>G GRCh38
NC_000004.11:g.47408937A>G , CM000666.1:g.47408937A>G GRCh37
NC_000004.10:g.47103694A>G NCBI36
NG_051831.1:g.380643A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1074A>G MANE Select ENSP00000295454.3:p.Lys358=
ENST00000295454.7:c.1074A>G ENSP00000295454.3:p.Lys358=
NM_000812.3:c.1074A>G NP_000803.2:p.Lys358=
XM_011513678.1:c.1053A>G XP_011511980.1:p.Lys351=
XM_017007985.1:c.423A>G XP_016863474.1:p.Lys141=
XM_024453976.1:c.975A>G XP_024309744.1:p.Lys325=
XM_024453977.1:c.975A>G XP_024309745.1:p.Lys325=
XM_024453978.1:c.975A>G XP_024309746.1:p.Lys325=
NM_000812.4:c.1074A>G MANE Select NP_000803.2:p.Lys358=