Canonical Allele Identifier: CA806634480

Gene: GABRA1

Linked Data

• dbSNP Id: rs563737368
• gnomAD v3: 5-161848045-G-A
• gnomAD v4: 5-161848045-G-A
• MyVariant Identifiers: chr5:g.161275051G>A (hg19) ; chr5:g.161848045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848045G>A , CM000667.2:g.161848045G>A	GRCh38
NC_000005.9:g.161275051G>A , CM000667.1:g.161275051G>A	GRCh37
NC_000005.8:g.161207629G>A	NCBI36
NG_011548.1:g.5855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635916.2:n.383G>A
ENST00000638112.1:c.-247-146G>A	ENSP00000489839.1:n.-247-146G>A
ENST00000023897.10:c.-247-146G>A	ENSP00000023897.6:n.-247-146G>A
ENST00000393943.9:c.-393G>A	ENSP00000377517.4:n.-393G>A
ENST00000428797.7:c.-247-146G>A	ENSP00000393097.2:n.-247-146G>A
ENST00000635096.1:c.-247-146G>A	ENSP00000489033.1:n.-247-146G>A
NM_000806.5:c.-247-146G>A	NP_000797.2:n.-247-146G>A
NM_001127643.1:c.-247-146G>A	NP_001121115.1:n.-247-146G>A
NM_001127644.1:c.-393G>A	NP_001121116.1:n.-393G>A
XR_941158.3:n.89+2475C>T
NM_001127643.2:c.-247-146G>A	NP_001121115.1:n.-247-146G>A