Canonical Allele Identifier: CA10623893
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 352608
ClinVar RCV Id: RCV000308049
dbSNP Id: rs2290732

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161897892A>G , CM000667.2:g.161897892A>G GRCh38
NC_000005.9:g.161324898A>G , CM000667.1:g.161324898A>G GRCh37
NC_000005.8:g.161257476A>G NCBI36
NG_011548.1:g.55702A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.*470A>G MANE Select ENSP00000377517.4:p.=
ENST00000636340.1:c.*1690A>G ENSP00000490002.1:p.=
ENST00000636573.1:c.*470A>G ENSP00000490320.1:p.=
ENST00000637044.1:c.*1615A>G ENSP00000490684.1:p.=
ENST00000638112.1:c.*470A>G ENSP00000489839.1:p.=
ENST00000638159.1:c.*470A>G ENSP00000490360.1:p.=
ENST00000393943.9:c.*470A>G ENSP00000377517.4:p.=
ENST00000428797.7:c.*470A>G ENSP00000393097.2:p.=
ENST00000437025.6:c.*470A>G ENSP00000415441.2:p.=
NM_000806.5:c.*470A>G NP_000797.2:p.=
NM_001127643.1:c.*470A>G NP_001121115.1:p.=
NM_001127644.1:c.*470A>G NP_001121116.1:p.=
NM_001127645.1:c.*470A>G NP_001121117.1:p.=
NM_001127648.1:c.*470A>G NP_001121120.1:p.=
NM_001127644.2:c.*470A>G MANE Select NP_001121116.1:p.=
NM_001127643.2:c.*470A>G NP_001121115.1:p.=
NM_001127645.2:c.*470A>G NP_001121117.1:p.=
NM_001127648.2:c.*470A>G NP_001121120.1:p.=