Canonical Allele Identifier: CA16604731
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 386238
ClinVar RCV Id: RCV000419969
dbSNP Id: rs1043312870

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161848191C>T , CM000667.2:g.161848191C>T GRCh38
NC_000005.9:g.161275197C>T , CM000667.1:g.161275197C>T GRCh37
NC_000005.8:g.161207775C>T NCBI36
NG_011548.1:g.6001C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.-247C>T MANE Select ENSP00000377517.4:n.-247C>T
ENST00000635916.2:n.529C>T
ENST00000638112.1:c.-247C>T ENSP00000489839.1:n.-247C>T
ENST00000023897.10:c.-247C>T ENSP00000023897.6:n.-247C>T
ENST00000393943.9:c.-247C>T ENSP00000377517.4:n.-247C>T
ENST00000428797.7:c.-247C>T ENSP00000393097.2:n.-247C>T
ENST00000635096.1:c.-247C>T ENSP00000489033.1:n.-247C>T
NM_000806.5:c.-247C>T NP_000797.2:n.-247C>T
NM_001127643.1:c.-247C>T NP_001121115.1:n.-247C>T
NM_001127644.1:c.-247C>T NP_001121116.1:n.-247C>T
XR_941158.3:n.89+2329G>A
NM_001127644.2:c.-247C>T MANE Select NP_001121116.1:n.-247C>T
NM_001127643.2:c.-247C>T NP_001121115.1:n.-247C>T