Canonical Allele Identifier: CA1596249857
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs972168608

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161847881T>A , CM000667.2:g.161847881T>A GRCh38
NC_000005.9:g.161274887T>A , CM000667.1:g.161274887T>A GRCh37
NC_000005.8:g.161207465T>A NCBI36
NG_011548.1:g.5691T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000635916.2:n.219T>A
ENST00000638112.1:c.-247-310T>A ENSP00000489839.1:n.-247-310T>A
ENST00000023897.10:c.-247-310T>A ENSP00000023897.6:n.-247-310T>A
ENST00000393943.9:c.-557T>A ENSP00000377517.4:n.-557T>A
ENST00000428797.7:c.-248+95T>A ENSP00000393097.2:n.-248+95T>A
ENST00000635096.1:c.-248+168T>A ENSP00000489033.1:n.-248+168T>A
NM_000806.5:c.-247-310T>A NP_000797.2:n.-247-310T>A
NM_001127643.1:c.-248+95T>A NP_001121115.1:n.-248+95T>A
XR_941158.3:n.89+2639A>T
NM_001127643.2:c.-248+95T>A NP_001121115.1:n.-248+95T>A