Canonical Allele Identifier: CA447609591
Gene: GABRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.161318052C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161891046C>T , CM000667.2:g.161891046C>T GRCh38
NC_000005.9:g.161318052C>T , CM000667.1:g.161318052C>T GRCh37
NC_000005.8:g.161250630C>T NCBI36
NG_011548.1:g.48856C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.852C>T MANE Select ENSP00000377517.4:p.Val284=
ENST00000635880.1:c.852C>T ENSP00000489738.1:p.Val284=
ENST00000635916.2:n.2453C>T
ENST00000636340.1:c.*701C>T ENSP00000490002.1:n.*701C>T
ENST00000636408.1:n.656C>T
ENST00000636573.1:c.852C>T ENSP00000490320.1:p.Val284=
ENST00000637044.1:c.*626C>T ENSP00000490684.1:n.*626C>T
ENST00000637827.1:c.852C>T ENSP00000490804.1:p.Val284=
ENST00000638112.1:c.852C>T ENSP00000489839.1:p.Val284=
ENST00000638159.1:c.897C>T ENSP00000490360.1:p.Val299=
ENST00000023897.10:c.852C>T ENSP00000023897.6:p.Val284=
ENST00000393943.9:c.852C>T ENSP00000377517.4:p.Val284=
ENST00000428797.7:c.852C>T ENSP00000393097.2:p.Val284=
ENST00000437025.6:c.852C>T ENSP00000415441.2:p.Val284=
ENST00000634335.1:c.852C>T ENSP00000489434.1:p.Val284=
NM_000806.5:c.852C>T NP_000797.2:p.Val284=
NM_001127643.1:c.852C>T NP_001121115.1:p.Val284=
NM_001127644.1:c.852C>T NP_001121116.1:p.Val284=
NM_001127645.1:c.852C>T NP_001121117.1:p.Val284=
NM_001127648.1:c.852C>T NP_001121120.1:p.Val284=
NM_001127644.2:c.852C>T MANE Select NP_001121116.1:p.Val284=
NM_001127643.2:c.852C>T NP_001121115.1:p.Val284=
NM_001127645.2:c.852C>T NP_001121117.1:p.Val284=
NM_001127648.2:c.852C>T NP_001121120.1:p.Val284=