Canonical Allele Identifier: CA356811917
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408888G>A (hg19) chr4:g.47406871G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406871G>A , CM000666.2:g.47406871G>A GRCh38
NC_000004.11:g.47408888G>A , CM000666.1:g.47408888G>A GRCh37
NC_000004.10:g.47103645G>A NCBI36
NG_051831.1:g.380594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1025G>A MANE Select ENSP00000295454.3:p.Ser342Asn
ENST00000295454.7:c.1025G>A ENSP00000295454.3:p.Ser342Asn
NM_000812.3:c.1025G>A NP_000803.2:p.Ser342Asn
XM_011513678.1:c.1004G>A XP_011511980.1:p.Ser335Asn
XM_017007985.1:c.374G>A XP_016863474.1:p.Ser125Asn
XM_024453976.1:c.926G>A XP_024309744.1:p.Ser309Asn
XM_024453977.1:c.926G>A XP_024309745.1:p.Ser309Asn
XM_024453978.1:c.926G>A XP_024309746.1:p.Ser309Asn
NM_000812.4:c.1025G>A MANE Select NP_000803.2:p.Ser342Asn
Search 100 bp 5'
Search 100 bp 3'