Canonical Allele Identifier: CA356811965
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408905G>C (hg19) chr4:g.47406888G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406888G>C , CM000666.2:g.47406888G>C GRCh38
NC_000004.11:g.47408905G>C , CM000666.1:g.47408905G>C GRCh37
NC_000004.10:g.47103662G>C NCBI36
NG_051831.1:g.380611G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1042G>C MANE Select ENSP00000295454.3:p.Ala348Pro
ENST00000295454.7:c.1042G>C ENSP00000295454.3:p.Ala348Pro
NM_000812.3:c.1042G>C NP_000803.2:p.Ala348Pro
XM_011513678.1:c.1021G>C XP_011511980.1:p.Ala341Pro
XM_017007985.1:c.391G>C XP_016863474.1:p.Ala131Pro
XM_024453976.1:c.943G>C XP_024309744.1:p.Ala315Pro
XM_024453977.1:c.943G>C XP_024309745.1:p.Ala315Pro
XM_024453978.1:c.943G>C XP_024309746.1:p.Ala315Pro
NM_000812.4:c.1042G>C MANE Select NP_000803.2:p.Ala348Pro
Search 100 bp 5'
Search 100 bp 3'