Canonical Allele Identifier: CA1596258175
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895795T= , CM000667.2:g.161895795T= GRCh38
NC_000005.9:g.161322801T= , CM000667.1:g.161322801T= GRCh37
NC_000005.8:g.161255379T= NCBI36
NG_011548.1:g.53605T=

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.986T= MANE Select ENSP00000377517.4:p.Ile329=
ENST00000635880.1:c.986T= ENSP00000489738.1:p.Ile329=
ENST00000635916.2:n.2587T=
ENST00000636340.1:c.*835T= ENSP00000490002.1:n.*835T=
ENST00000636408.1:n.790T=
ENST00000636573.1:c.986T= ENSP00000490320.1:p.Ile329=
ENST00000637044.1:c.*760T= ENSP00000490684.1:n.*760T=
ENST00000637827.1:c.986T= ENSP00000490804.1:p.Ile329=
ENST00000638112.1:c.986T= ENSP00000489839.1:p.Ile329=
ENST00000638159.1:c.1031T= ENSP00000490360.1:p.Ile344=
ENST00000023897.10:c.986T= ENSP00000023897.6:p.Ile329=
ENST00000393943.9:c.986T= ENSP00000377517.4:p.Ile329=
ENST00000428797.7:c.986T= ENSP00000393097.2:p.Ile329=
ENST00000437025.6:c.986T= ENSP00000415441.2:p.Ile329=
NM_000806.5:c.986T= NP_000797.2:p.Ile329=
NM_001127643.1:c.986T= NP_001121115.1:p.Ile329=
NM_001127644.1:c.986T= NP_001121116.1:p.Ile329=
NM_001127645.1:c.986T= NP_001121117.1:p.Ile329=
NM_001127648.1:c.986T= NP_001121120.1:p.Ile329=
NM_001127644.2:c.986T= MANE Select NP_001121116.1:p.Ile329=
NM_001127643.2:c.986T= NP_001121115.1:p.Ile329=
NM_001127645.2:c.986T= NP_001121117.1:p.Ile329=
NM_001127648.2:c.986T= NP_001121120.1:p.Ile329=