Canonical Allele Identifier: CA314682
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205526
ClinVar RCV Id: RCV000187505
dbSNP Id: rs796052497
MyVariant Identifiers: chr5:g.161322706C>G (hg19) chr5:g.161895700C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895700C>G , CM000667.2:g.161895700C>G GRCh38
NC_000005.9:g.161322706C>G , CM000667.1:g.161322706C>G GRCh37
NC_000005.8:g.161255284C>G NCBI36
NG_011548.1:g.53510C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.891C>G MANE Select ENSP00000377517.4:p.Ser297Arg
ENST00000635880.1:c.891C>G ENSP00000489738.1:p.Ser297Arg
ENST00000635916.2:n.2492C>G
ENST00000636340.1:c.*740C>G ENSP00000490002.1:n.*740C>G
ENST00000636408.1:n.695C>G
ENST00000636573.1:c.891C>G ENSP00000490320.1:p.Ser297Arg
ENST00000637044.1:c.*665C>G ENSP00000490684.1:n.*665C>G
ENST00000637827.1:c.891C>G ENSP00000490804.1:p.Ser297Arg
ENST00000638112.1:c.891C>G ENSP00000489839.1:p.Ser297Arg
ENST00000638159.1:c.936C>G ENSP00000490360.1:p.Ser312Arg
ENST00000023897.10:c.891C>G ENSP00000023897.6:p.Ser297Arg
ENST00000393943.9:c.891C>G ENSP00000377517.4:p.Ser297Arg
ENST00000428797.7:c.891C>G ENSP00000393097.2:p.Ser297Arg
ENST00000437025.6:c.891C>G ENSP00000415441.2:p.Ser297Arg
NM_000806.5:c.891C>G NP_000797.2:p.Ser297Arg
NM_001127643.1:c.891C>G NP_001121115.1:p.Ser297Arg
NM_001127644.1:c.891C>G NP_001121116.1:p.Ser297Arg
NM_001127645.1:c.891C>G NP_001121117.1:p.Ser297Arg
NM_001127648.1:c.891C>G NP_001121120.1:p.Ser297Arg
NM_001127644.2:c.891C>G MANE Select NP_001121116.1:p.Ser297Arg
NM_001127643.2:c.891C>G NP_001121115.1:p.Ser297Arg
NM_001127645.2:c.891C>G NP_001121117.1:p.Ser297Arg
NM_001127648.2:c.891C>G NP_001121120.1:p.Ser297Arg
Search 100 bp 5'
Search 100 bp 3'