Canonical Allele Identifier: CA362180110

Gene: GABRA1

Linked Data

• dbSNP Id: rs1291358550
• gnomAD v2: 5-161322694-G-A
• gnomAD v4: 5-161895688-G-A
• MyVariant Identifiers: chr5:g.161322694G>A (hg19) ; chr5:g.161895688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895688G>A , CM000667.2:g.161895688G>A	GRCh38
NC_000005.9:g.161322694G>A , CM000667.1:g.161322694G>A	GRCh37
NC_000005.8:g.161255272G>A	NCBI36
NG_011548.1:g.53498G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.879G>A MANE Select	ENSP00000377517.4:p.Met293Ile
ENST00000635880.1:c.879G>A	ENSP00000489738.1:p.Met293Ile
ENST00000635916.2:n.2480G>A
ENST00000636340.1:c.*728G>A	ENSP00000490002.1:n.*728G>A
ENST00000636408.1:n.683G>A
ENST00000636573.1:c.879G>A	ENSP00000490320.1:p.Met293Ile
ENST00000637044.1:c.*653G>A	ENSP00000490684.1:n.*653G>A
ENST00000637827.1:c.879G>A	ENSP00000490804.1:p.Met293Ile
ENST00000638112.1:c.879G>A	ENSP00000489839.1:p.Met293Ile
ENST00000638159.1:c.924G>A	ENSP00000490360.1:p.Met308Ile
ENST00000023897.10:c.879G>A	ENSP00000023897.6:p.Met293Ile
ENST00000393943.9:c.879G>A	ENSP00000377517.4:p.Met293Ile
ENST00000428797.7:c.879G>A	ENSP00000393097.2:p.Met293Ile
ENST00000437025.6:c.879G>A	ENSP00000415441.2:p.Met293Ile
NM_000806.5:c.879G>A	NP_000797.2:p.Met293Ile
NM_001127643.1:c.879G>A	NP_001121115.1:p.Met293Ile
NM_001127644.1:c.879G>A	NP_001121116.1:p.Met293Ile
NM_001127645.1:c.879G>A	NP_001121117.1:p.Met293Ile
NM_001127648.1:c.879G>A	NP_001121120.1:p.Met293Ile
NM_001127644.2:c.879G>A MANE Select	NP_001121116.1:p.Met293Ile
NM_001127643.2:c.879G>A	NP_001121115.1:p.Met293Ile
NM_001127645.2:c.879G>A	NP_001121117.1:p.Met293Ile
NM_001127648.2:c.879G>A	NP_001121120.1:p.Met293Ile