Canonical Allele Identifier: CA356811652
Gene: GABRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406808T>G , CM000666.2:g.47406808T>G GRCh38
NC_000004.11:g.47408825T>G , CM000666.1:g.47408825T>G GRCh37
NC_000004.10:g.47103582T>G NCBI36
NG_051831.1:g.380531T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.962T>G MANE Select ENSP00000295454.3:p.Leu321Arg
ENST00000295454.7:c.962T>G ENSP00000295454.3:p.Leu321Arg
NM_000812.3:c.962T>G NP_000803.2:p.Leu321Arg
XM_011513678.1:c.941T>G XP_011511980.1:p.Leu314Arg
XM_017007985.1:c.311T>G XP_016863474.1:p.Leu104Arg
XM_024453976.1:c.863T>G XP_024309744.1:p.Leu288Arg
XM_024453977.1:c.863T>G XP_024309745.1:p.Leu288Arg
XM_024453978.1:c.863T>G XP_024309746.1:p.Leu288Arg
NM_000812.4:c.962T>G MANE Select NP_000803.2:p.Leu321Arg