Canonical Allele Identifier: CA248019
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199041
ClinVar RCV Id: RCV000180531
dbSNP Id: rs794727962

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161891045T>C , CM000667.2:g.161891045T>C GRCh38
NC_000005.9:g.161318051T>C , CM000667.1:g.161318051T>C GRCh37
NC_000005.8:g.161250629T>C NCBI36
NG_011548.1:g.48855T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.851T>C MANE Select ENSP00000377517.4:p.Val284Ala
ENST00000635880.1:c.851T>C ENSP00000489738.1:p.Val284Ala
ENST00000635916.2:n.2452T>C
ENST00000636340.1:c.*700T>C ENSP00000490002.1:p.=
ENST00000636408.1:n.655T>C
ENST00000636573.1:c.851T>C ENSP00000490320.1:p.Val284Ala
ENST00000637044.1:c.*625T>C ENSP00000490684.1:p.=
ENST00000637827.1:c.851T>C ENSP00000490804.1:p.Val284Ala
ENST00000638112.1:c.851T>C ENSP00000489839.1:p.Val284Ala
ENST00000638159.1:c.896T>C ENSP00000490360.1:p.Val299Ala
ENST00000023897.10:c.851T>C ENSP00000023897.6:p.Val284Ala
ENST00000393943.9:c.851T>C ENSP00000377517.4:p.Val284Ala
ENST00000428797.7:c.851T>C ENSP00000393097.2:p.Val284Ala
ENST00000437025.6:c.851T>C ENSP00000415441.2:p.Val284Ala
ENST00000634335.1:c.851T>C ENSP00000489434.1:p.Val284Ala
NM_000806.5:c.851T>C NP_000797.2:p.Val284Ala
NM_001127643.1:c.851T>C NP_001121115.1:p.Val284Ala
NM_001127644.1:c.851T>C NP_001121116.1:p.Val284Ala
NM_001127645.1:c.851T>C NP_001121117.1:p.Val284Ala
NM_001127648.1:c.851T>C NP_001121120.1:p.Val284Ala
NM_001127644.2:c.851T>C MANE Select NP_001121116.1:p.Val284Ala
NM_001127643.2:c.851T>C NP_001121115.1:p.Val284Ala
NM_001127645.2:c.851T>C NP_001121117.1:p.Val284Ala
NM_001127648.2:c.851T>C NP_001121120.1:p.Val284Ala