Canonical Allele Identifier: CA11777994
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs728293
gnomAD v2: 4-47357683-G-A
gnomAD v3: 4-47355666-G-A
gnomAD v4: 4-47355666-G-A
MyVariant Identifiers: chr4:g.47357683G>A (hg19) chr4:g.47355666G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47355666G>A , CM000666.2:g.47355666G>A GRCh38
NC_000004.11:g.47357683G>A , CM000666.1:g.47357683G>A GRCh37
NC_000004.10:g.47052440G>A NCBI36
NG_051831.1:g.329389G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295454.8:c.544+35457G>A MANE Select ENSP00000295454.3:n.544+35457G>A
ENST00000295454.7:c.544+35457G>A ENSP00000295454.3:n.544+35457G>A
ENST00000510909.1:c.*212+35457G>A ENSP00000426766.1:n.*212+35457G>A
NM_000812.3:c.544+35457G>A NP_000803.2:n.544+35457G>A
XM_011513678.1:c.523+35457G>A XP_011511980.1:n.523+35457G>A
XM_024453976.1:c.445+35457G>A XP_024309744.1:n.445+35457G>A
XM_024453977.1:c.445+35457G>A XP_024309745.1:n.445+35457G>A
XM_024453978.1:c.445+35457G>A XP_024309746.1:n.445+35457G>A
NM_000812.4:c.544+35457G>A MANE Select NP_000803.2:n.544+35457G>A
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