Canonical Allele Identifier: CA362180087

Gene: GABRA1

Linked Data

• gnomAD v3: 5-161895677-G-T
• gnomAD v4: 5-161895677-G-T
• MyVariant Identifiers: chr5:g.161322683G>T (hg19) ; chr5:g.161895677G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895677G>T , CM000667.2:g.161895677G>T	GRCh38
NC_000005.9:g.161322683G>T , CM000667.1:g.161322683G>T	GRCh37
NC_000005.8:g.161255261G>T	NCBI36
NG_011548.1:g.53487G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.868G>T MANE Select	ENSP00000377517.4:p.Val290Leu
ENST00000635880.1:c.868G>T	ENSP00000489738.1:p.Val290Leu
ENST00000635916.2:n.2469G>T
ENST00000636340.1:c.*717G>T	ENSP00000490002.1:n.*717G>T
ENST00000636408.1:n.672G>T
ENST00000636573.1:c.868G>T	ENSP00000490320.1:p.Val290Leu
ENST00000637044.1:c.*642G>T	ENSP00000490684.1:n.*642G>T
ENST00000637827.1:c.868G>T	ENSP00000490804.1:p.Val290Leu
ENST00000638112.1:c.868G>T	ENSP00000489839.1:p.Val290Leu
ENST00000638159.1:c.913G>T	ENSP00000490360.1:p.Val305Leu
ENST00000023897.10:c.868G>T	ENSP00000023897.6:p.Val290Leu
ENST00000393943.9:c.868G>T	ENSP00000377517.4:p.Val290Leu
ENST00000428797.7:c.868G>T	ENSP00000393097.2:p.Val290Leu
ENST00000437025.6:c.868G>T	ENSP00000415441.2:p.Val290Leu
NM_000806.5:c.868G>T	NP_000797.2:p.Val290Leu
NM_001127643.1:c.868G>T	NP_001121115.1:p.Val290Leu
NM_001127644.1:c.868G>T	NP_001121116.1:p.Val290Leu
NM_001127645.1:c.868G>T	NP_001121117.1:p.Val290Leu
NM_001127648.1:c.868G>T	NP_001121120.1:p.Val290Leu
NM_001127644.2:c.868G>T MANE Select	NP_001121116.1:p.Val290Leu
NM_001127643.2:c.868G>T	NP_001121115.1:p.Val290Leu
NM_001127645.2:c.868G>T	NP_001121117.1:p.Val290Leu
NM_001127648.2:c.868G>T	NP_001121120.1:p.Val290Leu