Canonical Allele Identifier: CA447608950

Gene: GABRA1

Linked Data

• COSMIC: COSM3853384
• MyVariant Identifiers: chr5:g.161300185A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161873179A>C , CM000667.2:g.161873179A>C	GRCh38
NC_000005.9:g.161300185A>C , CM000667.1:g.161300185A>C	GRCh37
NC_000005.8:g.161232763A>C	NCBI36
NG_011548.1:g.30989A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.318A>C MANE Select	ENSP00000377517.4:p.Gly106=
ENST00000635880.1:c.318A>C	ENSP00000489738.1:p.Gly106=
ENST00000635916.2:n.1093A>C
ENST00000636340.1:c.*167A>C	ENSP00000490002.1:n.*167A>C
ENST00000636408.1:n.122A>C
ENST00000636573.1:c.318A>C	ENSP00000490320.1:p.Gly106=
ENST00000637044.1:c.*92A>C	ENSP00000490684.1:n.*92A>C
ENST00000637827.1:c.318A>C	ENSP00000490804.1:p.Gly106=
ENST00000638112.1:c.318A>C	ENSP00000489839.1:p.Gly106=
ENST00000638159.1:c.363A>C	ENSP00000490360.1:p.Gly121=
ENST00000023897.10:c.318A>C	ENSP00000023897.6:p.Gly106=
ENST00000393943.9:c.318A>C	ENSP00000377517.4:p.Gly106=
ENST00000428797.7:c.318A>C	ENSP00000393097.2:p.Gly106=
ENST00000437025.6:c.318A>C	ENSP00000415441.2:p.Gly106=
ENST00000519542.1:n.82A>C
ENST00000519621.2:c.318A>C	ENSP00000430435.2:p.Gly106=
ENST00000634335.1:c.318A>C	ENSP00000489434.1:p.Gly106=
NM_000806.5:c.318A>C	NP_000797.2:p.Gly106=
NM_001127643.1:c.318A>C	NP_001121115.1:p.Gly106=
NM_001127644.1:c.318A>C	NP_001121116.1:p.Gly106=
NM_001127645.1:c.318A>C	NP_001121117.1:p.Gly106=
NM_001127648.1:c.318A>C	NP_001121120.1:p.Gly106=
NM_001127644.2:c.318A>C MANE Select	NP_001121116.1:p.Gly106=
NM_001127643.2:c.318A>C	NP_001121115.1:p.Gly106=
NM_001127645.2:c.318A>C	NP_001121117.1:p.Gly106=
NM_001127648.2:c.318A>C	NP_001121120.1:p.Gly106=