Canonical Allele Identifier: CA131081732

Gene: GABRA1

Linked Data

• dbSNP Id: rs1016267432
• gnomAD v3: 5-161848117-C-T
• gnomAD v4: 5-161848117-C-T
• MyVariant Identifiers: chr5:g.161275123C>T (hg19) ; chr5:g.161848117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848117C>T , CM000667.2:g.161848117C>T	GRCh38
NC_000005.9:g.161275123C>T , CM000667.1:g.161275123C>T	GRCh37
NC_000005.8:g.161207701C>T	NCBI36
NG_011548.1:g.5927C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000635916.2:n.455C>T
ENST00000638112.1:c.-247-74C>T	ENSP00000489839.1:n.-247-74C>T
ENST00000023897.10:c.-247-74C>T	ENSP00000023897.6:n.-247-74C>T
ENST00000393943.9:c.-321C>T	ENSP00000377517.4:n.-321C>T
ENST00000428797.7:c.-247-74C>T	ENSP00000393097.2:n.-247-74C>T
ENST00000635096.1:c.-247-74C>T	ENSP00000489033.1:n.-247-74C>T
NM_000806.5:c.-247-74C>T	NP_000797.2:n.-247-74C>T
NM_001127643.1:c.-247-74C>T	NP_001121115.1:n.-247-74C>T
NM_001127644.1:c.-321C>T	NP_001121116.1:n.-321C>T
XR_941158.3:n.89+2403G>A
NM_001127643.2:c.-247-74C>T	NP_001121115.1:n.-247-74C>T