Canonical Allele Identifier: CA2670529728
Gene: GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-47407001-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407001T>A , CM000666.2:g.47407001T>A GRCh38
NC_000004.11:g.47409018T>A , CM000666.1:g.47409018T>A GRCh37
NC_000004.10:g.47103775T>A NCBI36
NG_051831.1:g.380724T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+75T>A MANE Select ENSP00000295454.3:n.1080+75T>A
ENST00000295454.7:c.1080+75T>A ENSP00000295454.3:n.1080+75T>A
NM_000812.3:c.1080+75T>A NP_000803.2:n.1080+75T>A
XM_011513678.1:c.1059+75T>A XP_011511980.1:n.1059+75T>A
XM_017007985.1:c.429+75T>A XP_016863474.1:n.429+75T>A
XM_024453976.1:c.981+75T>A XP_024309744.1:n.981+75T>A
XM_024453977.1:c.981+75T>A XP_024309745.1:n.981+75T>A
XM_024453978.1:c.981+75T>A XP_024309746.1:n.981+75T>A
NM_000812.4:c.1080+75T>A MANE Select NP_000803.2:n.1080+75T>A
Search 100 bp 5'
Search 100 bp 3'