Canonical Allele Identifier: CA214959
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16214
ClinVar RCV Id: RCV000017601
dbSNP Id: rs121434579
MyVariant Identifiers: chr5:g.161322780C>A (hg19) chr5:g.161895774C>A (hg38)
PubMed: PMID:11992121 PMID:18534981 PMID:20551311
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895774C>A , CM000667.2:g.161895774C>A GRCh38
NC_000005.9:g.161322780C>A , CM000667.1:g.161322780C>A GRCh37
NC_000005.8:g.161255358C>A NCBI36
NG_011548.1:g.53584C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.965C>A MANE Select ENSP00000377517.4:p.Ala322Asp
ENST00000635880.1:c.965C>A ENSP00000489738.1:p.Ala322Asp
ENST00000635916.2:n.2566C>A
ENST00000636340.1:c.*814C>A ENSP00000490002.1:n.*814C>A
ENST00000636408.1:n.769C>A
ENST00000636573.1:c.965C>A ENSP00000490320.1:p.Ala322Asp
ENST00000637044.1:c.*739C>A ENSP00000490684.1:n.*739C>A
ENST00000637827.1:c.965C>A ENSP00000490804.1:p.Ala322Asp
ENST00000638112.1:c.965C>A ENSP00000489839.1:p.Ala322Asp
ENST00000638159.1:c.1010C>A ENSP00000490360.1:p.Ala337Asp
ENST00000023897.10:c.965C>A ENSP00000023897.6:p.Ala322Asp
ENST00000393943.9:c.965C>A ENSP00000377517.4:p.Ala322Asp
ENST00000428797.7:c.965C>A ENSP00000393097.2:p.Ala322Asp
ENST00000437025.6:c.965C>A ENSP00000415441.2:p.Ala322Asp
NM_000806.5:c.965C>A NP_000797.2:p.Ala322Asp
NM_001127643.1:c.965C>A NP_001121115.1:p.Ala322Asp
NM_001127644.1:c.965C>A NP_001121116.1:p.Ala322Asp
NM_001127645.1:c.965C>A NP_001121117.1:p.Ala322Asp
NM_001127648.1:c.965C>A NP_001121120.1:p.Ala322Asp
NM_001127644.2:c.965C>A MANE Select NP_001121116.1:p.Ala322Asp
NM_001127643.2:c.965C>A NP_001121115.1:p.Ala322Asp
NM_001127645.2:c.965C>A NP_001121117.1:p.Ala322Asp
NM_001127648.2:c.965C>A NP_001121120.1:p.Ala322Asp
Search 100 bp 5'
Search 100 bp 3'