Canonical Allele Identifier: CA439245922
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408934T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406917T>C , CM000666.2:g.47406917T>C GRCh38
NC_000004.11:g.47408934T>C , CM000666.1:g.47408934T>C GRCh37
NC_000004.10:g.47103691T>C NCBI36
NG_051831.1:g.380640T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1071T>C MANE Select ENSP00000295454.3:p.Asn357=
ENST00000295454.7:c.1071T>C ENSP00000295454.3:p.Asn357=
NM_000812.3:c.1071T>C NP_000803.2:p.Asn357=
XM_011513678.1:c.1050T>C XP_011511980.1:p.Asn350=
XM_017007985.1:c.420T>C XP_016863474.1:p.Asn140=
XM_024453976.1:c.972T>C XP_024309744.1:p.Asn324=
XM_024453977.1:c.972T>C XP_024309745.1:p.Asn324=
XM_024453978.1:c.972T>C XP_024309746.1:p.Asn324=
NM_000812.4:c.1071T>C MANE Select NP_000803.2:p.Asn357=