Canonical Allele Identifier: CA1149430381
Gene: GABRD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2025121C= , CM000663.2:g.2025121C= GRCh38
NC_000001.10:g.1956560C= , CM000663.1:g.1956560C= GRCh37
NC_000001.9:g.1946420C= NCBI36
NG_008168.1:g.10793C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378585.7:c.181+67C= MANE Select ENSP00000367848.4:n.181+67C=
ENST00000638411.1:c.181+67C= ENSP00000491632.1:n.181+67C=
ENST00000638604.1:n.245+67C=
ENST00000638771.1:c.181+67C= ENSP00000492435.1:n.181+67C=
ENST00000639045.1:c.*167+67C= ENSP00000491997.1:n.*167+67C=
ENST00000639777.1:n.785+67C=
ENST00000639935.1:n.218+67C=
ENST00000640030.1:c.121+67C= ENSP00000491411.1:n.121+67C=
ENST00000640067.1:c.181+67C= ENSP00000491844.1:n.181+67C=
ENST00000640423.1:n.190+67C=
ENST00000640949.1:c.181+67C= ENSP00000492500.1:n.181+67C=
ENST00000378585.5:c.181+67C= ENSP00000367848.4:n.181+67C=
NM_000815.4:c.181+67C= NP_000806.2:n.181+67C=
XM_011541194.1:c.220+67C= XP_011539496.1:n.220+67C=
XM_011541194.3:c.220+67C= XP_011539496.1:n.220+67C=
XM_017000936.1:c.886+67C= XP_016856425.1:n.886+67C=
NM_000815.5:c.181+67C= MANE Select NP_000806.2:n.181+67C=