Canonical Allele Identifier: CA131081741

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 516091
• ClinVar RCV Id: RCV000609253 ; RCV001836849
• dbSNP Id: rs183280626
• gnomAD v2: 5-161275186-T-C
• gnomAD v3: 5-161848180-T-C
• gnomAD v4: 5-161848180-T-C
• MyVariant Identifiers: chr5:g.161275186T>C (hg19) ; chr5:g.161848180T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848180T>C , CM000667.2:g.161848180T>C	GRCh38
NC_000005.9:g.161275186T>C , CM000667.1:g.161275186T>C	GRCh37
NC_000005.8:g.161207764T>C	NCBI36
NG_011548.1:g.5990T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.-258T>C MANE Select	ENSP00000377517.4:n.-258T>C
ENST00000635916.2:n.518T>C
ENST00000638112.1:c.-247-11T>C	ENSP00000489839.1:n.-247-11T>C
ENST00000023897.10:c.-247-11T>C	ENSP00000023897.6:n.-247-11T>C
ENST00000393943.9:c.-258T>C	ENSP00000377517.4:n.-258T>C
ENST00000428797.7:c.-247-11T>C	ENSP00000393097.2:n.-247-11T>C
ENST00000635096.1:c.-247-11T>C	ENSP00000489033.1:n.-247-11T>C
NM_000806.5:c.-247-11T>C	NP_000797.2:n.-247-11T>C
NM_001127643.1:c.-247-11T>C	NP_001121115.1:n.-247-11T>C
NM_001127644.1:c.-258T>C	NP_001121116.1:n.-258T>C
XR_941158.3:n.89+2340A>G
NM_001127644.2:c.-258T>C MANE Select	NP_001121116.1:n.-258T>C
NM_001127643.2:c.-247-11T>C	NP_001121115.1:n.-247-11T>C