Canonical Allele Identifier: CA447608792

Gene: GABRA1

Linked Data

• MyVariant Identifiers: chr5:g.161281194T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161854188T>C , CM000667.2:g.161854188T>C	GRCh38
NC_000005.9:g.161281194T>C , CM000667.1:g.161281194T>C	GRCh37
NC_000005.8:g.161213772T>C	NCBI36
NG_011548.1:g.11998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.105T>C MANE Select	ENSP00000377517.4:p.Leu35=
ENST00000635880.1:c.105T>C	ENSP00000489738.1:p.Leu35=
ENST00000635916.2:n.880T>C
ENST00000636340.1:c.167T>C	ENSP00000490002.1:p.Leu56Ser
ENST00000636573.1:c.105T>C	ENSP00000490320.1:p.Leu35=
ENST00000637044.1:c.105T>C	ENSP00000490684.1:p.Leu35=
ENST00000637827.1:c.105T>C	ENSP00000490804.1:p.Leu35=
ENST00000638112.1:c.105T>C	ENSP00000489839.1:p.Leu35=
ENST00000638159.1:c.150T>C	ENSP00000490360.1:p.Leu50=
ENST00000023897.10:c.105T>C	ENSP00000023897.6:p.Leu35=
ENST00000393943.9:c.105T>C	ENSP00000377517.4:p.Leu35=
ENST00000428797.7:c.105T>C	ENSP00000393097.2:p.Leu35=
ENST00000437025.6:c.105T>C	ENSP00000415441.2:p.Leu35=
ENST00000519621.2:c.105T>C	ENSP00000430435.2:p.Leu35=
ENST00000521339.5:c.123T>C	ENSP00000430895.1:p.Leu41=
ENST00000522651.6:c.168T>C	ENSP00000430507.2:p.Leu56=
ENST00000634335.1:c.105T>C	ENSP00000489434.1:p.Leu35=
ENST00000635096.1:c.105T>C	ENSP00000489033.1:p.Leu35=
NM_000806.5:c.105T>C	NP_000797.2:p.Leu35=
NM_001127643.1:c.105T>C	NP_001121115.1:p.Leu35=
NM_001127644.1:c.105T>C	NP_001121116.1:p.Leu35=
NM_001127645.1:c.105T>C	NP_001121117.1:p.Leu35=
NM_001127648.1:c.105T>C	NP_001121120.1:p.Leu35=
NM_001127644.2:c.105T>C MANE Select	NP_001121116.1:p.Leu35=
NM_001127643.2:c.105T>C	NP_001121115.1:p.Leu35=
NM_001127645.2:c.105T>C	NP_001121117.1:p.Leu35=
NM_001127648.2:c.105T>C	NP_001121120.1:p.Leu35=