Canonical Allele Identifier: CA314680
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205525
ClinVar RCV Id: RCV000187504 RCV001253629 RCV001857613
dbSNP Id: rs796052496
MyVariant Identifiers: chr5:g.161322699C>T (hg19) chr5:g.161895693C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895693C>T , CM000667.2:g.161895693C>T GRCh38
NC_000005.9:g.161322699C>T , CM000667.1:g.161322699C>T GRCh37
NC_000005.8:g.161255277C>T NCBI36
NG_011548.1:g.53503C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.884C>T MANE Select ENSP00000377517.4:p.Thr295Ile
ENST00000635880.1:c.884C>T ENSP00000489738.1:p.Thr295Ile
ENST00000635916.2:n.2485C>T
ENST00000636340.1:c.*733C>T ENSP00000490002.1:n.*733C>T
ENST00000636408.1:n.688C>T
ENST00000636573.1:c.884C>T ENSP00000490320.1:p.Thr295Ile
ENST00000637044.1:c.*658C>T ENSP00000490684.1:n.*658C>T
ENST00000637827.1:c.884C>T ENSP00000490804.1:p.Thr295Ile
ENST00000638112.1:c.884C>T ENSP00000489839.1:p.Thr295Ile
ENST00000638159.1:c.929C>T ENSP00000490360.1:p.Thr310Ile
ENST00000023897.10:c.884C>T ENSP00000023897.6:p.Thr295Ile
ENST00000393943.9:c.884C>T ENSP00000377517.4:p.Thr295Ile
ENST00000428797.7:c.884C>T ENSP00000393097.2:p.Thr295Ile
ENST00000437025.6:c.884C>T ENSP00000415441.2:p.Thr295Ile
NM_000806.5:c.884C>T NP_000797.2:p.Thr295Ile
NM_001127643.1:c.884C>T NP_001121115.1:p.Thr295Ile
NM_001127644.1:c.884C>T NP_001121116.1:p.Thr295Ile
NM_001127645.1:c.884C>T NP_001121117.1:p.Thr295Ile
NM_001127648.1:c.884C>T NP_001121120.1:p.Thr295Ile
NM_001127644.2:c.884C>T MANE Select NP_001121116.1:p.Thr295Ile
NM_001127643.2:c.884C>T NP_001121115.1:p.Thr295Ile
NM_001127645.2:c.884C>T NP_001121117.1:p.Thr295Ile
NM_001127648.2:c.884C>T NP_001121120.1:p.Thr295Ile
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