Canonical Allele Identifier: CA356811982
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408913G>C (hg19) chr4:g.47406896G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406896G>C , CM000666.2:g.47406896G>C GRCh38
NC_000004.11:g.47408913G>C , CM000666.1:g.47408913G>C GRCh37
NC_000004.10:g.47103670G>C NCBI36
NG_051831.1:g.380619G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1050G>C MANE Select ENSP00000295454.3:p.Glu350Asp
ENST00000295454.7:c.1050G>C ENSP00000295454.3:p.Glu350Asp
NM_000812.3:c.1050G>C NP_000803.2:p.Glu350Asp
XM_011513678.1:c.1029G>C XP_011511980.1:p.Glu343Asp
XM_017007985.1:c.399G>C XP_016863474.1:p.Glu133Asp
XM_024453976.1:c.951G>C XP_024309744.1:p.Glu317Asp
XM_024453977.1:c.951G>C XP_024309745.1:p.Glu317Asp
XM_024453978.1:c.951G>C XP_024309746.1:p.Glu317Asp
NM_000812.4:c.1050G>C MANE Select NP_000803.2:p.Glu350Asp
Search 100 bp 5'
Search 100 bp 3'