Canonical Allele Identifier: CA551650073
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1304200406
gnomAD v2: 4-47408949-A-T
gnomAD v4: 4-47406932-A-T
MyVariant Identifiers: chr4:g.47408949A>T (hg19) chr4:g.47406932A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406932A>T , CM000666.2:g.47406932A>T GRCh38
NC_000004.11:g.47408949A>T , CM000666.1:g.47408949A>T GRCh37
NC_000004.10:g.47103706A>T NCBI36
NG_051831.1:g.380655A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+6A>T MANE Select ENSP00000295454.3:n.1080+6A>T
ENST00000295454.7:c.1080+6A>T ENSP00000295454.3:n.1080+6A>T
NM_000812.3:c.1080+6A>T NP_000803.2:n.1080+6A>T
XM_011513678.1:c.1059+6A>T XP_011511980.1:n.1059+6A>T
XM_017007985.1:c.429+6A>T XP_016863474.1:n.429+6A>T
XM_024453976.1:c.981+6A>T XP_024309744.1:n.981+6A>T
XM_024453977.1:c.981+6A>T XP_024309745.1:n.981+6A>T
XM_024453978.1:c.981+6A>T XP_024309746.1:n.981+6A>T
NM_000812.4:c.1080+6A>T MANE Select NP_000803.2:n.1080+6A>T
Search 100 bp 5'
Search 100 bp 3'