Canonical Allele Identifier: CA314674
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205522
ClinVar RCV Id: RCV000187501 RCV001216490
dbSNP Id: rs796052493
MyVariant Identifiers: chr5:g.161322674G>A (hg19) chr5:g.161895668G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895668G>A , CM000667.2:g.161895668G>A GRCh38
NC_000005.9:g.161322674G>A , CM000667.1:g.161322674G>A GRCh37
NC_000005.8:g.161255252G>A NCBI36
NG_011548.1:g.53478G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.859G>A MANE Select ENSP00000377517.4:p.Val287Ile
ENST00000635880.1:c.859G>A ENSP00000489738.1:p.Val287Ile
ENST00000635916.2:n.2460G>A
ENST00000636340.1:c.*708G>A ENSP00000490002.1:n.*708G>A
ENST00000636408.1:n.663G>A
ENST00000636573.1:c.859G>A ENSP00000490320.1:p.Val287Ile
ENST00000637044.1:c.*633G>A ENSP00000490684.1:n.*633G>A
ENST00000637827.1:c.859G>A ENSP00000490804.1:p.Val287Ile
ENST00000638112.1:c.859G>A ENSP00000489839.1:p.Val287Ile
ENST00000638159.1:c.904G>A ENSP00000490360.1:p.Val302Ile
ENST00000023897.10:c.859G>A ENSP00000023897.6:p.Val287Ile
ENST00000393943.9:c.859G>A ENSP00000377517.4:p.Val287Ile
ENST00000428797.7:c.859G>A ENSP00000393097.2:p.Val287Ile
ENST00000437025.6:c.859G>A ENSP00000415441.2:p.Val287Ile
NM_000806.5:c.859G>A NP_000797.2:p.Val287Ile
NM_001127643.1:c.859G>A NP_001121115.1:p.Val287Ile
NM_001127644.1:c.859G>A NP_001121116.1:p.Val287Ile
NM_001127645.1:c.859G>A NP_001121117.1:p.Val287Ile
NM_001127648.1:c.859G>A NP_001121120.1:p.Val287Ile
NM_001127644.2:c.859G>A MANE Select NP_001121116.1:p.Val287Ile
NM_001127643.2:c.859G>A NP_001121115.1:p.Val287Ile
NM_001127645.2:c.859G>A NP_001121117.1:p.Val287Ile
NM_001127648.2:c.859G>A NP_001121120.1:p.Val287Ile
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