Canonical Allele Identifier: CA362180349

Gene: GABRA1

Linked Data

• MyVariant Identifiers: chr5:g.161322803G>T (hg19) ; chr5:g.161895797G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895797G>T , CM000667.2:g.161895797G>T	GRCh38
NC_000005.9:g.161322803G>T , CM000667.1:g.161322803G>T	GRCh37
NC_000005.8:g.161255381G>T	NCBI36
NG_011548.1:g.53607G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.988G>T MANE Select	ENSP00000377517.4:p.Glu330Ter
ENST00000635880.1:c.988G>T	ENSP00000489738.1:p.Glu330Ter
ENST00000635916.2:n.2589G>T
ENST00000636340.1:c.*837G>T	ENSP00000490002.1:n.*837G>T
ENST00000636408.1:n.792G>T
ENST00000636573.1:c.988G>T	ENSP00000490320.1:p.Glu330Ter
ENST00000637044.1:c.*762G>T	ENSP00000490684.1:n.*762G>T
ENST00000637827.1:c.988G>T	ENSP00000490804.1:p.Glu330Ter
ENST00000638112.1:c.988G>T	ENSP00000489839.1:p.Glu330Ter
ENST00000638159.1:c.1033G>T	ENSP00000490360.1:p.Glu345Ter
ENST00000023897.10:c.988G>T	ENSP00000023897.6:p.Glu330Ter
ENST00000393943.9:c.988G>T	ENSP00000377517.4:p.Glu330Ter
ENST00000428797.7:c.988G>T	ENSP00000393097.2:p.Glu330Ter
ENST00000437025.6:c.988G>T	ENSP00000415441.2:p.Glu330Ter
NM_000806.5:c.988G>T	NP_000797.2:p.Glu330Ter
NM_001127643.1:c.988G>T	NP_001121115.1:p.Glu330Ter
NM_001127644.1:c.988G>T	NP_001121116.1:p.Glu330Ter
NM_001127645.1:c.988G>T	NP_001121117.1:p.Glu330Ter
NM_001127648.1:c.988G>T	NP_001121120.1:p.Glu330Ter
NM_001127644.2:c.988G>T MANE Select	NP_001121116.1:p.Glu330Ter
NM_001127643.2:c.988G>T	NP_001121115.1:p.Glu330Ter
NM_001127645.2:c.988G>T	NP_001121117.1:p.Glu330Ter
NM_001127648.2:c.988G>T	NP_001121120.1:p.Glu330Ter