Canonical Allele Identifier: CA2676320747

Gene: GABRA1

Linked Data

• gnomAD v4: 5-161848114-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848114C>G , CM000667.2:g.161848114C>G	GRCh38
NC_000005.9:g.161275120C>G , CM000667.1:g.161275120C>G	GRCh37
NC_000005.8:g.161207698C>G	NCBI36
NG_011548.1:g.5924C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000635916.2:n.452C>G
ENST00000638112.1:c.-247-77C>G	ENSP00000489839.1:n.-247-77C>G
ENST00000023897.10:c.-247-77C>G	ENSP00000023897.6:n.-247-77C>G
ENST00000393943.9:c.-324C>G	ENSP00000377517.4:n.-324C>G
ENST00000428797.7:c.-247-77C>G	ENSP00000393097.2:n.-247-77C>G
ENST00000635096.1:c.-247-77C>G	ENSP00000489033.1:n.-247-77C>G
NM_000806.5:c.-247-77C>G	NP_000797.2:n.-247-77C>G
NM_001127643.1:c.-247-77C>G	NP_001121115.1:n.-247-77C>G
NM_001127644.1:c.-324C>G	NP_001121116.1:n.-324C>G
XR_941158.3:n.89+2406G>C
NM_001127643.2:c.-247-77C>G	NP_001121115.1:n.-247-77C>G