Canonical Allele Identifier: CA439245741
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408730C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406713C>A , CM000666.2:g.47406713C>A GRCh38
NC_000004.11:g.47408730C>A , CM000666.1:g.47408730C>A GRCh37
NC_000004.10:g.47103487C>A NCBI36
NG_051831.1:g.380436C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295454.8:c.867C>A MANE Select ENSP00000295454.3:p.Ile289=
ENST00000295454.7:c.867C>A ENSP00000295454.3:p.Ile289=
NM_000812.3:c.867C>A NP_000803.2:p.Ile289=
XM_011513678.1:c.846C>A XP_011511980.1:p.Ile282=
XM_017007985.1:c.216C>A XP_016863474.1:p.Ile72=
XM_024453976.1:c.768C>A XP_024309744.1:p.Ile256=
XM_024453977.1:c.768C>A XP_024309745.1:p.Ile256=
XM_024453978.1:c.768C>A XP_024309746.1:p.Ile256=
NM_000812.4:c.867C>A MANE Select NP_000803.2:p.Ile289=
Search 100 bp 5'
Search 100 bp 3'