Canonical Allele Identifier: CA2543231226

Gene: GABRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161847886A>C , CM000667.2:g.161847886A>C	GRCh38
NC_000005.9:g.161274892A>C , CM000667.1:g.161274892A>C	GRCh37
NC_000005.8:g.161207470A>C	NCBI36
NG_011548.1:g.5696A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635916.2:n.224A>C
ENST00000638112.1:c.-247-305A>C	ENSP00000489839.1:n.-247-305A>C
ENST00000023897.10:c.-247-305A>C	ENSP00000023897.6:n.-247-305A>C
ENST00000393943.9:c.-552A>C	ENSP00000377517.4:n.-552A>C
ENST00000428797.7:c.-248+100A>C	ENSP00000393097.2:n.-248+100A>C
ENST00000635096.1:c.-248+173A>C	ENSP00000489033.1:n.-248+173A>C
NM_000806.5:c.-247-305A>C	NP_000797.2:n.-247-305A>C
NM_001127643.1:c.-248+100A>C	NP_001121115.1:n.-248+100A>C
XR_941158.3:n.89+2634T>G
NM_001127643.2:c.-248+100A>C	NP_001121115.1:n.-248+100A>C