Canonical Allele Identifier: CA1596250020
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1757283235

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161848221G>C , CM000667.2:g.161848221G>C GRCh38
NC_000005.9:g.161275227G>C , CM000667.1:g.161275227G>C GRCh37
NC_000005.8:g.161207805G>C NCBI36
NG_011548.1:g.6031G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.-217G>C MANE Select ENSP00000377517.4:n.-217G>C
ENST00000635916.2:n.559G>C
ENST00000638112.1:c.-217G>C ENSP00000489839.1:n.-217G>C
ENST00000023897.10:c.-217G>C ENSP00000023897.6:n.-217G>C
ENST00000393943.9:c.-217G>C ENSP00000377517.4:n.-217G>C
ENST00000428797.7:c.-217G>C ENSP00000393097.2:n.-217G>C
ENST00000635096.1:c.-217G>C ENSP00000489033.1:n.-217G>C
NM_000806.5:c.-217G>C NP_000797.2:n.-217G>C
NM_001127643.1:c.-217G>C NP_001121115.1:n.-217G>C
NM_001127644.1:c.-217G>C NP_001121116.1:n.-217G>C
XR_941158.3:n.89+2299C>G
NM_001127644.2:c.-217G>C MANE Select NP_001121116.1:n.-217G>C
NM_001127643.2:c.-217G>C NP_001121115.1:n.-217G>C