Canonical Allele Identifier: CA1596249861
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1757272065
gnomAD v4: 5-161847884-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161847884G>A , CM000667.2:g.161847884G>A GRCh38
NC_000005.9:g.161274890G>A , CM000667.1:g.161274890G>A GRCh37
NC_000005.8:g.161207468G>A NCBI36
NG_011548.1:g.5694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000635916.2:n.222G>A
ENST00000638112.1:c.-247-307G>A ENSP00000489839.1:n.-247-307G>A
ENST00000023897.10:c.-247-307G>A ENSP00000023897.6:n.-247-307G>A
ENST00000393943.9:c.-554G>A ENSP00000377517.4:n.-554G>A
ENST00000428797.7:c.-248+98G>A ENSP00000393097.2:n.-248+98G>A
ENST00000635096.1:c.-248+171G>A ENSP00000489033.1:n.-248+171G>A
NM_000806.5:c.-247-307G>A NP_000797.2:n.-247-307G>A
NM_001127643.1:c.-248+98G>A NP_001121115.1:n.-248+98G>A
XR_941158.3:n.89+2636C>T
NM_001127643.2:c.-248+98G>A NP_001121115.1:n.-248+98G>A
Search 100 bp 5'
Search 100 bp 3'