Canonical Allele Identifier: CA1149429380
Gene: GABRD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2024459G= , CM000663.2:g.2024459G= GRCh38
NC_000001.10:g.1955898G= , CM000663.1:g.1955898G= GRCh37
NC_000001.9:g.1945758G= NCBI36
NG_008168.1:g.10131G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378585.7:c.69-483G= MANE Select ENSP00000367848.4:n.69-483G=
ENST00000638411.1:c.69-483G= ENSP00000491632.1:n.69-483G=
ENST00000638604.1:n.133-483G=
ENST00000638771.1:c.69-483G= ENSP00000492435.1:n.69-483G=
ENST00000639045.1:c.*55-483G= ENSP00000491997.1:n.*55-483G=
ENST00000639777.1:n.190G=
ENST00000639935.1:n.106-483G=
ENST00000640030.1:c.9-483G= ENSP00000491411.1:n.9-483G=
ENST00000640067.1:c.69-483G= ENSP00000491844.1:n.69-483G=
ENST00000640423.1:n.78-483G=
ENST00000640949.1:c.69-483G= ENSP00000492500.1:n.69-483G=
ENST00000378585.5:c.69-483G= ENSP00000367848.4:n.69-483G=
NM_000815.4:c.69-483G= NP_000806.2:n.69-483G=
XM_011541194.1:c.108-483G= XP_011539496.1:n.108-483G=
XM_011541194.3:c.108-483G= XP_011539496.1:n.108-483G=
XM_017000936.1:c.291G= XP_016856425.1:p.Leu97=
NM_000815.5:c.69-483G= MANE Select NP_000806.2:n.69-483G=