Canonical Allele Identifier: CA356811944
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408897A>C (hg19) chr4:g.47406880A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406880A>C , CM000666.2:g.47406880A>C GRCh38
NC_000004.11:g.47408897A>C , CM000666.1:g.47408897A>C GRCh37
NC_000004.10:g.47103654A>C NCBI36
NG_051831.1:g.380603A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1034A>C MANE Select ENSP00000295454.3:p.Asp345Ala
ENST00000295454.7:c.1034A>C ENSP00000295454.3:p.Asp345Ala
NM_000812.3:c.1034A>C NP_000803.2:p.Asp345Ala
XM_011513678.1:c.1013A>C XP_011511980.1:p.Asp338Ala
XM_017007985.1:c.383A>C XP_016863474.1:p.Asp128Ala
XM_024453976.1:c.935A>C XP_024309744.1:p.Asp312Ala
XM_024453977.1:c.935A>C XP_024309745.1:p.Asp312Ala
XM_024453978.1:c.935A>C XP_024309746.1:p.Asp312Ala
NM_000812.4:c.1034A>C MANE Select NP_000803.2:p.Asp345Ala
Search 100 bp 5'
Search 100 bp 3'