Canonical Allele Identifier: CA16604734
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384167
ClinVar RCV Id: RCV000434413
dbSNP Id: rs1057521883

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161848419T>C , CM000667.2:g.161848419T>C GRCh38
NC_000005.9:g.161275425T>C , CM000667.1:g.161275425T>C GRCh37
NC_000005.8:g.161208003T>C NCBI36
NG_011548.1:g.6229T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.-19T>C MANE Select ENSP00000377517.4:n.-19T>C
ENST00000635916.2:n.757T>C
ENST00000636340.1:c.-19T>C ENSP00000490002.1:n.-19T>C
ENST00000637044.1:c.-19T>C ENSP00000490684.1:n.-19T>C
ENST00000638112.1:c.-19T>C ENSP00000489839.1:n.-19T>C
ENST00000023897.10:c.-19T>C ENSP00000023897.6:n.-19T>C
ENST00000393943.9:c.-19T>C ENSP00000377517.4:n.-19T>C
ENST00000428797.7:c.-19T>C ENSP00000393097.2:n.-19T>C
ENST00000635096.1:c.-19T>C ENSP00000489033.1:n.-19T>C
NM_000806.5:c.-19T>C NP_000797.2:n.-19T>C
NM_001127643.1:c.-19T>C NP_001121115.1:n.-19T>C
NM_001127644.1:c.-19T>C NP_001121116.1:n.-19T>C
XR_941158.3:n.89+2101A>G
NM_001127644.2:c.-19T>C MANE Select NP_001121116.1:n.-19T>C
NM_001127643.2:c.-19T>C NP_001121115.1:n.-19T>C