Canonical Allele Identifier: CA1149430290
Gene: GABRD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2025076G= , CM000663.2:g.2025076G= GRCh38
NC_000001.10:g.1956515G= , CM000663.1:g.1956515G= GRCh37
NC_000001.9:g.1946375G= NCBI36
NG_008168.1:g.10748G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378585.7:c.181+22G= MANE Select ENSP00000367848.4:n.181+22G=
ENST00000638411.1:c.181+22G= ENSP00000491632.1:n.181+22G=
ENST00000638604.1:n.245+22G=
ENST00000638771.1:c.181+22G= ENSP00000492435.1:n.181+22G=
ENST00000639045.1:c.*167+22G= ENSP00000491997.1:n.*167+22G=
ENST00000639777.1:n.785+22G=
ENST00000639935.1:n.218+22G=
ENST00000640030.1:c.121+22G= ENSP00000491411.1:n.121+22G=
ENST00000640067.1:c.181+22G= ENSP00000491844.1:n.181+22G=
ENST00000640423.1:n.190+22G=
ENST00000640949.1:c.181+22G= ENSP00000492500.1:n.181+22G=
ENST00000378585.5:c.181+22G= ENSP00000367848.4:n.181+22G=
NM_000815.4:c.181+22G= NP_000806.2:n.181+22G=
XM_011541194.1:c.220+22G= XP_011539496.1:n.220+22G=
XM_011541194.3:c.220+22G= XP_011539496.1:n.220+22G=
XM_017000936.1:c.886+22G= XP_016856425.1:n.886+22G=
NM_000815.5:c.181+22G= MANE Select NP_000806.2:n.181+22G=