Canonical Allele Identifier: CA356811979
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408912A>C (hg19) chr4:g.47406895A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406895A>C , CM000666.2:g.47406895A>C GRCh38
NC_000004.11:g.47408912A>C , CM000666.1:g.47408912A>C GRCh37
NC_000004.10:g.47103669A>C NCBI36
NG_051831.1:g.380618A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1049A>C MANE Select ENSP00000295454.3:p.Glu350Ala
ENST00000295454.7:c.1049A>C ENSP00000295454.3:p.Glu350Ala
NM_000812.3:c.1049A>C NP_000803.2:p.Glu350Ala
XM_011513678.1:c.1028A>C XP_011511980.1:p.Glu343Ala
XM_017007985.1:c.398A>C XP_016863474.1:p.Glu133Ala
XM_024453976.1:c.950A>C XP_024309744.1:p.Glu317Ala
XM_024453977.1:c.950A>C XP_024309745.1:p.Glu317Ala
XM_024453978.1:c.950A>C XP_024309746.1:p.Glu317Ala
NM_000812.4:c.1049A>C MANE Select NP_000803.2:p.Glu350Ala
Search 100 bp 5'
Search 100 bp 3'