Canonical Allele Identifier: CA131084936

Gene: GABRA1

Linked Data

• dbSNP Id: rs569662373
• gnomAD v2: 5-161300058-C-T
• gnomAD v3: 5-161873052-C-T
• gnomAD v4: 5-161873052-C-T
• COSMIC: COSN20462424
• MyVariant Identifiers: chr5:g.161300058C>T (hg19) ; chr5:g.161873052C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161873052C>T , CM000667.2:g.161873052C>T	GRCh38
NC_000005.9:g.161300058C>T , CM000667.1:g.161300058C>T	GRCh37
NC_000005.8:g.161232636C>T	NCBI36
NG_011548.1:g.30862C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.256-65C>T MANE Select	ENSP00000377517.4:n.256-65C>T
ENST00000635880.1:c.256-65C>T	ENSP00000489738.1:n.256-65C>T
ENST00000635916.2:n.1031-65C>T
ENST00000636340.1:c.*105-65C>T	ENSP00000490002.1:n.*105-65C>T
ENST00000636408.1:n.60-65C>T
ENST00000636573.1:c.256-65C>T	ENSP00000490320.1:n.256-65C>T
ENST00000637044.1:c.256-6C>T	ENSP00000490684.1:n.256-6C>T
ENST00000637827.1:c.256-65C>T	ENSP00000490804.1:n.256-65C>T
ENST00000638112.1:c.256-65C>T	ENSP00000489839.1:n.256-65C>T
ENST00000638159.1:c.301-65C>T	ENSP00000490360.1:n.301-65C>T
ENST00000023897.10:c.256-65C>T	ENSP00000023897.6:n.256-65C>T
ENST00000393943.9:c.256-65C>T	ENSP00000377517.4:n.256-65C>T
ENST00000428797.7:c.256-65C>T	ENSP00000393097.2:n.256-65C>T
ENST00000437025.6:c.256-65C>T	ENSP00000415441.2:n.256-65C>T
ENST00000519621.2:c.256-65C>T	ENSP00000430435.2:n.256-65C>T
ENST00000522651.6:c.319-65C>T	ENSP00000430507.2:n.319-65C>T
ENST00000634335.1:c.256-65C>T	ENSP00000489434.1:n.256-65C>T
NM_000806.5:c.256-65C>T	NP_000797.2:n.256-65C>T
NM_001127643.1:c.256-65C>T	NP_001121115.1:n.256-65C>T
NM_001127644.1:c.256-65C>T	NP_001121116.1:n.256-65C>T
NM_001127645.1:c.256-65C>T	NP_001121117.1:n.256-65C>T
NM_001127648.1:c.256-65C>T	NP_001121120.1:n.256-65C>T
NM_001127644.2:c.256-65C>T MANE Select	NP_001121116.1:n.256-65C>T
NM_001127643.2:c.256-65C>T	NP_001121115.1:n.256-65C>T
NM_001127645.2:c.256-65C>T	NP_001121117.1:n.256-65C>T
NM_001127648.2:c.256-65C>T	NP_001121120.1:n.256-65C>T