Canonical Allele Identifier: CA2676320596

Gene: GABRA1

Linked Data

• gnomAD v4: 5-161847941-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161847941G>T , CM000667.2:g.161847941G>T	GRCh38
NC_000005.9:g.161274947G>T , CM000667.1:g.161274947G>T	GRCh37
NC_000005.8:g.161207525G>T	NCBI36
NG_011548.1:g.5751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635916.2:n.279G>T
ENST00000638112.1:c.-247-250G>T	ENSP00000489839.1:n.-247-250G>T
ENST00000023897.10:c.-247-250G>T	ENSP00000023897.6:n.-247-250G>T
ENST00000393943.9:c.-497G>T	ENSP00000377517.4:n.-497G>T
ENST00000428797.7:c.-248+155G>T	ENSP00000393097.2:n.-248+155G>T
ENST00000635096.1:c.-248+228G>T	ENSP00000489033.1:n.-248+228G>T
NM_000806.5:c.-247-250G>T	NP_000797.2:n.-247-250G>T
NM_001127643.1:c.-248+155G>T	NP_001121115.1:n.-248+155G>T
NM_001127644.1:c.-497G>T	NP_001121116.1:n.-497G>T
XR_941158.3:n.89+2579C>A
NM_001127643.2:c.-248+155G>T	NP_001121115.1:n.-248+155G>T