Canonical Allele Identifier: CA356812042
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408937A>C (hg19) chr4:g.47406920A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406920A>C , CM000666.2:g.47406920A>C GRCh38
NC_000004.11:g.47408937A>C , CM000666.1:g.47408937A>C GRCh37
NC_000004.10:g.47103694A>C NCBI36
NG_051831.1:g.380643A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1074A>C MANE Select ENSP00000295454.3:p.Lys358Asn
ENST00000295454.7:c.1074A>C ENSP00000295454.3:p.Lys358Asn
NM_000812.3:c.1074A>C NP_000803.2:p.Lys358Asn
XM_011513678.1:c.1053A>C XP_011511980.1:p.Lys351Asn
XM_017007985.1:c.423A>C XP_016863474.1:p.Lys141Asn
XM_024453976.1:c.975A>C XP_024309744.1:p.Lys325Asn
XM_024453977.1:c.975A>C XP_024309745.1:p.Lys325Asn
XM_024453978.1:c.975A>C XP_024309746.1:p.Lys325Asn
NM_000812.4:c.1074A>C MANE Select NP_000803.2:p.Lys358Asn
Search 100 bp 5'
Search 100 bp 3'