Canonical Allele Identifier: CA1596249869

Gene: GABRA1

Linked Data

• dbSNP Id: rs1757272553

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161847899T>G , CM000667.2:g.161847899T>G	GRCh38
NC_000005.9:g.161274905T>G , CM000667.1:g.161274905T>G	GRCh37
NC_000005.8:g.161207483T>G	NCBI36
NG_011548.1:g.5709T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635916.2:n.237T>G
ENST00000638112.1:c.-247-292T>G	ENSP00000489839.1:n.-247-292T>G
ENST00000023897.10:c.-247-292T>G	ENSP00000023897.6:n.-247-292T>G
ENST00000393943.9:c.-539T>G	ENSP00000377517.4:n.-539T>G
ENST00000428797.7:c.-248+113T>G	ENSP00000393097.2:n.-248+113T>G
ENST00000635096.1:c.-248+186T>G	ENSP00000489033.1:n.-248+186T>G
NM_000806.5:c.-247-292T>G	NP_000797.2:n.-247-292T>G
NM_001127643.1:c.-248+113T>G	NP_001121115.1:n.-248+113T>G
XR_941158.3:n.89+2621A>C
NM_001127643.2:c.-248+113T>G	NP_001121115.1:n.-248+113T>G