Canonical Allele Identifier: CA1145658766
Gene: GABRD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2024502C= , CM000663.2:g.2024502C= GRCh38
NC_000001.10:g.1955941C= , CM000663.1:g.1955941C= GRCh37
NC_000001.9:g.1945801C= NCBI36
NG_008168.1:g.10174C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378585.7:c.69-440C= MANE Select ENSP00000367848.4:n.69-440C=
ENST00000638411.1:c.69-440C= ENSP00000491632.1:n.69-440C=
ENST00000638604.1:n.133-440C=
ENST00000638771.1:c.69-440C= ENSP00000492435.1:n.69-440C=
ENST00000639045.1:c.*55-440C= ENSP00000491997.1:n.*55-440C=
ENST00000639777.1:n.233C=
ENST00000639935.1:n.106-440C=
ENST00000640030.1:c.9-440C= ENSP00000491411.1:n.9-440C=
ENST00000640067.1:c.69-440C= ENSP00000491844.1:n.69-440C=
ENST00000640423.1:n.78-440C=
ENST00000640949.1:c.69-440C= ENSP00000492500.1:n.69-440C=
ENST00000378585.5:c.69-440C= ENSP00000367848.4:n.69-440C=
NM_000815.4:c.69-440C= NP_000806.2:n.69-440C=
XM_011541194.1:c.108-440C= XP_011539496.1:n.108-440C=
XM_011541194.3:c.108-440C= XP_011539496.1:n.108-440C=
XM_017000936.1:c.334C= XP_016856425.1:p.Arg112=
NM_000815.5:c.69-440C= MANE Select NP_000806.2:n.69-440C=