Canonical Allele Identifier: CA356811234
Gene: GABRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406694T>G , CM000666.2:g.47406694T>G GRCh38
NC_000004.11:g.47408711T>G , CM000666.1:g.47408711T>G GRCh37
NC_000004.10:g.47103468T>G NCBI36
NG_051831.1:g.380417T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.848T>G MANE Select ENSP00000295454.3:p.Val283Gly
ENST00000295454.7:c.848T>G ENSP00000295454.3:p.Val283Gly
NM_000812.3:c.848T>G NP_000803.2:p.Val283Gly
XM_011513678.1:c.827T>G XP_011511980.1:p.Val276Gly
XM_017007985.1:c.197T>G XP_016863474.1:p.Val66Gly
XM_024453976.1:c.749T>G XP_024309744.1:p.Val250Gly
XM_024453977.1:c.749T>G XP_024309745.1:p.Val250Gly
XM_024453978.1:c.749T>G XP_024309746.1:p.Val250Gly
NM_000812.4:c.848T>G MANE Select NP_000803.2:p.Val283Gly