Canonical Allele Identifier: CA356812045
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408938G>C (hg19) chr4:g.47406921G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406921G>C , CM000666.2:g.47406921G>C GRCh38
NC_000004.11:g.47408938G>C , CM000666.1:g.47408938G>C GRCh37
NC_000004.10:g.47103695G>C NCBI36
NG_051831.1:g.380644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1075G>C MANE Select ENSP00000295454.3:p.Val359Leu
ENST00000295454.7:c.1075G>C ENSP00000295454.3:p.Val359Leu
NM_000812.3:c.1075G>C NP_000803.2:p.Val359Leu
XM_011513678.1:c.1054G>C XP_011511980.1:p.Val352Leu
XM_017007985.1:c.424G>C XP_016863474.1:p.Val142Leu
XM_024453976.1:c.976G>C XP_024309744.1:p.Val326Leu
XM_024453977.1:c.976G>C XP_024309745.1:p.Val326Leu
XM_024453978.1:c.976G>C XP_024309746.1:p.Val326Leu
NM_000812.4:c.1075G>C MANE Select NP_000803.2:p.Val359Leu
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