Canonical Allele Identifier: CA1139970872
Gene: GABRD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2024545C= , CM000663.2:g.2024545C= GRCh38
NC_000001.10:g.1955984C= , CM000663.1:g.1955984C= GRCh37
NC_000001.9:g.1945844C= NCBI36
NG_008168.1:g.10217C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378585.7:c.69-397C= MANE Select ENSP00000367848.4:n.69-397C=
ENST00000638411.1:c.69-397C= ENSP00000491632.1:n.69-397C=
ENST00000638604.1:n.133-397C=
ENST00000638771.1:c.69-397C= ENSP00000492435.1:n.69-397C=
ENST00000639045.1:c.*55-397C= ENSP00000491997.1:n.*55-397C=
ENST00000639777.1:n.276C=
ENST00000639935.1:n.106-397C=
ENST00000640030.1:c.9-397C= ENSP00000491411.1:n.9-397C=
ENST00000640067.1:c.69-397C= ENSP00000491844.1:n.69-397C=
ENST00000640423.1:n.78-397C=
ENST00000640949.1:c.69-397C= ENSP00000492500.1:n.69-397C=
ENST00000378585.5:c.69-397C= ENSP00000367848.4:n.69-397C=
NM_000815.4:c.69-397C= NP_000806.2:n.69-397C=
XM_011541194.1:c.108-397C= XP_011539496.1:n.108-397C=
XM_011541194.3:c.108-397C= XP_011539496.1:n.108-397C=
XM_017000936.1:c.377C= XP_016856425.1:p.Thr126=
NM_000815.5:c.69-397C= MANE Select NP_000806.2:n.69-397C=