Canonical Allele Identifier: CA1149430436
Gene: GABRD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2025158C= , CM000663.2:g.2025158C= GRCh38
NC_000001.10:g.1956597C= , CM000663.1:g.1956597C= GRCh37
NC_000001.9:g.1946457C= NCBI36
NG_008168.1:g.10830C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378585.7:c.181+104C= MANE Select ENSP00000367848.4:n.181+104C=
ENST00000638411.1:c.181+104C= ENSP00000491632.1:n.181+104C=
ENST00000638604.1:n.245+104C=
ENST00000638771.1:c.181+104C= ENSP00000492435.1:n.181+104C=
ENST00000639045.1:c.*167+104C= ENSP00000491997.1:n.*167+104C=
ENST00000639777.1:n.785+104C=
ENST00000639935.1:n.218+104C=
ENST00000640030.1:c.121+104C= ENSP00000491411.1:n.121+104C=
ENST00000640067.1:c.181+104C= ENSP00000491844.1:n.181+104C=
ENST00000640423.1:n.190+104C=
ENST00000640949.1:c.181+104C= ENSP00000492500.1:n.181+104C=
ENST00000378585.5:c.181+104C= ENSP00000367848.4:n.181+104C=
NM_000815.4:c.181+104C= NP_000806.2:n.181+104C=
XM_011541194.1:c.220+104C= XP_011539496.1:n.220+104C=
XM_011541194.3:c.220+104C= XP_011539496.1:n.220+104C=
XM_017000936.1:c.886+104C= XP_016856425.1:n.886+104C=
NM_000815.5:c.181+104C= MANE Select NP_000806.2:n.181+104C=