Canonical Allele Identifier: CA314668
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs796052490

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161882641C>G , CM000667.2:g.161882641C>G GRCh38
NC_000005.9:g.161309647C>G , CM000667.1:g.161309647C>G GRCh37
NC_000005.8:g.161242225C>G NCBI36
NG_011548.1:g.40451C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.643C>G MANE Select ENSP00000377517.4:p.Leu215Val
ENST00000635880.1:c.643C>G ENSP00000489738.1:p.Leu215Val
ENST00000635916.2:n.2244C>G
ENST00000636340.1:c.*492C>G ENSP00000490002.1:p.=
ENST00000636408.1:n.447C>G
ENST00000636573.1:c.643C>G ENSP00000490320.1:p.Leu215Val
ENST00000637044.1:c.*417C>G ENSP00000490684.1:p.=
ENST00000637827.1:c.643C>G ENSP00000490804.1:p.Leu215Val
ENST00000638112.1:c.643C>G ENSP00000489839.1:p.Leu215Val
ENST00000638159.1:c.688C>G ENSP00000490360.1:p.Leu230Val
ENST00000023897.10:c.643C>G ENSP00000023897.6:p.Leu215Val
ENST00000393943.9:c.643C>G ENSP00000377517.4:p.Leu215Val
ENST00000428797.7:c.643C>G ENSP00000393097.2:p.Leu215Val
ENST00000437025.6:c.643C>G ENSP00000415441.2:p.Leu215Val
ENST00000519542.1:n.407C>G
ENST00000634335.1:c.643C>G ENSP00000489434.1:p.Leu215Val
NM_000806.5:c.643C>G NP_000797.2:p.Leu215Val
NM_001127643.1:c.643C>G NP_001121115.1:p.Leu215Val
NM_001127644.1:c.643C>G NP_001121116.1:p.Leu215Val
NM_001127645.1:c.643C>G NP_001121117.1:p.Leu215Val
NM_001127648.1:c.643C>G NP_001121120.1:p.Leu215Val
NM_001127644.2:c.643C>G MANE Select NP_001121116.1:p.Leu215Val
NM_001127643.2:c.643C>G NP_001121115.1:p.Leu215Val
NM_001127645.2:c.643C>G NP_001121117.1:p.Leu215Val
NM_001127648.2:c.643C>G NP_001121120.1:p.Leu215Val