Canonical Allele Identifier: CA314684

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 205527
• ClinVar RCV Id: RCV000187506
• dbSNP Id: rs796052498
• MyVariant Identifiers: chr5:g.161322764A>C (hg19) ; chr5:g.161895758A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895758A>C , CM000667.2:g.161895758A>C	GRCh38
NC_000005.9:g.161322764A>C , CM000667.1:g.161322764A>C	GRCh37
NC_000005.8:g.161255342A>C	NCBI36
NG_011548.1:g.53568A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.949A>C MANE Select	ENSP00000377517.4:p.Ile317Leu
ENST00000635880.1:c.949A>C	ENSP00000489738.1:p.Ile317Leu
ENST00000635916.2:n.2550A>C
ENST00000636340.1:c.*798A>C	ENSP00000490002.1:n.*798A>C
ENST00000636408.1:n.753A>C
ENST00000636573.1:c.949A>C	ENSP00000490320.1:p.Ile317Leu
ENST00000637044.1:c.*723A>C	ENSP00000490684.1:n.*723A>C
ENST00000637827.1:c.949A>C	ENSP00000490804.1:p.Ile317Leu
ENST00000638112.1:c.949A>C	ENSP00000489839.1:p.Ile317Leu
ENST00000638159.1:c.994A>C	ENSP00000490360.1:p.Ile332Leu
ENST00000023897.10:c.949A>C	ENSP00000023897.6:p.Ile317Leu
ENST00000393943.9:c.949A>C	ENSP00000377517.4:p.Ile317Leu
ENST00000428797.7:c.949A>C	ENSP00000393097.2:p.Ile317Leu
ENST00000437025.6:c.949A>C	ENSP00000415441.2:p.Ile317Leu
NM_000806.5:c.949A>C	NP_000797.2:p.Ile317Leu
NM_001127643.1:c.949A>C	NP_001121115.1:p.Ile317Leu
NM_001127644.1:c.949A>C	NP_001121116.1:p.Ile317Leu
NM_001127645.1:c.949A>C	NP_001121117.1:p.Ile317Leu
NM_001127648.1:c.949A>C	NP_001121120.1:p.Ile317Leu
NM_001127644.2:c.949A>C MANE Select	NP_001121116.1:p.Ile317Leu
NM_001127643.2:c.949A>C	NP_001121115.1:p.Ile317Leu
NM_001127645.2:c.949A>C	NP_001121117.1:p.Ile317Leu
NM_001127648.2:c.949A>C	NP_001121120.1:p.Ile317Leu