Canonical Allele Identifier: CA1596259186
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1755441829

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161897816T>C , CM000667.2:g.161897816T>C GRCh38
NC_000005.9:g.161324822T>C , CM000667.1:g.161324822T>C GRCh37
NC_000005.8:g.161257400T>C NCBI36
NG_011548.1:g.55626T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.*394T>C MANE Select ENSP00000377517.4:n.*394T>C
ENST00000635916.2:n.4608T>C
ENST00000636340.1:c.*1614T>C ENSP00000490002.1:n.*1614T>C
ENST00000636408.1:n.1569T>C
ENST00000636573.1:c.*394T>C ENSP00000490320.1:n.*394T>C
ENST00000637044.1:c.*1539T>C ENSP00000490684.1:n.*1539T>C
ENST00000638112.1:c.*394T>C ENSP00000489839.1:n.*394T>C
ENST00000638159.1:c.*394T>C ENSP00000490360.1:n.*394T>C
ENST00000393943.9:c.*394T>C ENSP00000377517.4:n.*394T>C
ENST00000428797.7:c.*394T>C ENSP00000393097.2:n.*394T>C
ENST00000437025.6:c.*394T>C ENSP00000415441.2:n.*394T>C
NM_000806.5:c.*394T>C NP_000797.2:n.*394T>C
NM_001127643.1:c.*394T>C NP_001121115.1:n.*394T>C
NM_001127644.1:c.*394T>C NP_001121116.1:n.*394T>C
NM_001127645.1:c.*394T>C NP_001121117.1:n.*394T>C
NM_001127648.1:c.*394T>C NP_001121120.1:n.*394T>C
NM_001127644.2:c.*394T>C MANE Select NP_001121116.1:n.*394T>C
NM_001127643.2:c.*394T>C NP_001121115.1:n.*394T>C
NM_001127645.2:c.*394T>C NP_001121117.1:n.*394T>C
NM_001127648.2:c.*394T>C NP_001121120.1:n.*394T>C