Canonical Allele Identifier: CA2676320528

Gene: GABRA1

Linked Data

• gnomAD v4: 5-161847892-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161847892C>A , CM000667.2:g.161847892C>A	GRCh38
NC_000005.9:g.161274898C>A , CM000667.1:g.161274898C>A	GRCh37
NC_000005.8:g.161207476C>A	NCBI36
NG_011548.1:g.5702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635916.2:n.230C>A
ENST00000638112.1:c.-247-299C>A	ENSP00000489839.1:n.-247-299C>A
ENST00000023897.10:c.-247-299C>A	ENSP00000023897.6:n.-247-299C>A
ENST00000393943.9:c.-546C>A	ENSP00000377517.4:n.-546C>A
ENST00000428797.7:c.-248+106C>A	ENSP00000393097.2:n.-248+106C>A
ENST00000635096.1:c.-248+179C>A	ENSP00000489033.1:n.-248+179C>A
NM_000806.5:c.-247-299C>A	NP_000797.2:n.-247-299C>A
NM_001127643.1:c.-248+106C>A	NP_001121115.1:n.-248+106C>A
XR_941158.3:n.89+2628G>T
NM_001127643.2:c.-248+106C>A	NP_001121115.1:n.-248+106C>A