Canonical Allele Identifier: CA795469942
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1253493960

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406944C>T , CM000666.2:g.47406944C>T GRCh38
NC_000004.11:g.47408961C>T , CM000666.1:g.47408961C>T GRCh37
NC_000004.10:g.47103718C>T NCBI36
NG_051831.1:g.380667C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+18C>T MANE Select ENSP00000295454.3:n.1080+18C>T
ENST00000295454.7:c.1080+18C>T ENSP00000295454.3:n.1080+18C>T
NM_000812.3:c.1080+18C>T NP_000803.2:n.1080+18C>T
XM_011513678.1:c.1059+18C>T XP_011511980.1:n.1059+18C>T
XM_017007985.1:c.429+18C>T XP_016863474.1:n.429+18C>T
XM_024453976.1:c.981+18C>T XP_024309744.1:n.981+18C>T
XM_024453977.1:c.981+18C>T XP_024309745.1:n.981+18C>T
XM_024453978.1:c.981+18C>T XP_024309746.1:n.981+18C>T
NM_000812.4:c.1080+18C>T MANE Select NP_000803.2:n.1080+18C>T