Canonical Allele Identifier: CA356811977
Gene: GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-47406894-G-A
MyVariant Identifiers: chr4:g.47408911G>A (hg19) chr4:g.47406894G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406894G>A , CM000666.2:g.47406894G>A GRCh38
NC_000004.11:g.47408911G>A , CM000666.1:g.47408911G>A GRCh37
NC_000004.10:g.47103668G>A NCBI36
NG_051831.1:g.380617G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1048G>A MANE Select ENSP00000295454.3:p.Glu350Lys
ENST00000295454.7:c.1048G>A ENSP00000295454.3:p.Glu350Lys
NM_000812.3:c.1048G>A NP_000803.2:p.Glu350Lys
XM_011513678.1:c.1027G>A XP_011511980.1:p.Glu343Lys
XM_017007985.1:c.397G>A XP_016863474.1:p.Glu133Lys
XM_024453976.1:c.949G>A XP_024309744.1:p.Glu317Lys
XM_024453977.1:c.949G>A XP_024309745.1:p.Glu317Lys
XM_024453978.1:c.949G>A XP_024309746.1:p.Glu317Lys
NM_000812.4:c.1048G>A MANE Select NP_000803.2:p.Glu350Lys
Search 100 bp 5'
Search 100 bp 3'