Canonical Allele Identifier: CA534511

Gene: GABRD

Linked Data

• ClinVar Variation Id: 2807071
• ClinVar RCV Id: RCV003639649
• dbSNP Id: rs745866758
• ExAC: 1:1956393 C / T
• gnomAD v2: 1-1956393-C-T
• gnomAD v4: 1-2024954-C-T
• MyVariant Identifiers: chr1:g.1956393C>T (hg19) ; chr1:g.2024954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024954C>T , CM000663.2:g.2024954C>T	GRCh38
NC_000001.10:g.1956393C>T , CM000663.1:g.1956393C>T	GRCh37
NC_000001.9:g.1946253C>T	NCBI36
NG_008168.1:g.10626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.81C>T MANE Select	ENSP00000367848.4:p.Asp27=
ENST00000638411.1:c.81C>T	ENSP00000491632.1:p.Asp27=
ENST00000638604.1:n.145C>T
ENST00000638771.1:c.81C>T	ENSP00000492435.1:p.Asp27=
ENST00000639045.1:c.*67C>T	ENSP00000491997.1:n.*67C>T
ENST00000639777.1:n.685C>T
ENST00000639935.1:n.118C>T
ENST00000640030.1:c.21C>T	ENSP00000491411.1:p.Asp7=
ENST00000640067.1:c.81C>T	ENSP00000491844.1:p.Asp27=
ENST00000640423.1:n.90C>T
ENST00000640949.1:c.81C>T	ENSP00000492500.1:p.Asp27=
ENST00000378585.5:c.81C>T	ENSP00000367848.4:p.Asp27=
NM_000815.4:c.81C>T	NP_000806.2:p.Asp27=
XM_011541194.1:c.120C>T	XP_011539496.1:p.Asp40=
XM_011541194.3:c.120C>T	XP_011539496.1:p.Asp40=
XM_017000936.1:c.786C>T	XP_016856425.1:p.Asp262=
NM_000815.5:c.81C>T MANE Select	NP_000806.2:p.Asp27=