Canonical Allele Identifier: CA795469350
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1218885502
MyVariant Identifiers: chr4:g.47408475T>A (hg19) chr4:g.47406458T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406458T>A , CM000666.2:g.47406458T>A GRCh38
NC_000004.11:g.47408475T>A , CM000666.1:g.47408475T>A GRCh37
NC_000004.10:g.47103232T>A NCBI36
NG_051831.1:g.380181T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.836-224T>A MANE Select ENSP00000295454.3:n.836-224T>A
ENST00000295454.7:c.836-224T>A ENSP00000295454.3:n.836-224T>A
NM_000812.3:c.836-224T>A NP_000803.2:n.836-224T>A
XM_011513678.1:c.815-224T>A XP_011511980.1:n.815-224T>A
XM_017007985.1:c.185-224T>A XP_016863474.1:n.185-224T>A
XM_024453976.1:c.737-224T>A XP_024309744.1:n.737-224T>A
XM_024453977.1:c.737-224T>A XP_024309745.1:n.737-224T>A
XM_024453978.1:c.737-224T>A XP_024309746.1:n.737-224T>A
NM_000812.4:c.836-224T>A MANE Select NP_000803.2:n.836-224T>A
Search 100 bp 5'
Search 100 bp 3'