Canonical Allele Identifier: CA2642690955

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024930-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024930T>C , CM000663.2:g.2024930T>C	GRCh38
NC_000001.10:g.1956369T>C , CM000663.1:g.1956369T>C	GRCh37
NC_000001.9:g.1946229T>C	NCBI36
NG_008168.1:g.10602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-12T>C MANE Select	ENSP00000367848.4:n.69-12T>C
ENST00000638411.1:c.69-12T>C	ENSP00000491632.1:n.69-12T>C
ENST00000638604.1:n.133-12T>C
ENST00000638771.1:c.69-12T>C	ENSP00000492435.1:n.69-12T>C
ENST00000639045.1:c.*55-12T>C	ENSP00000491997.1:n.*55-12T>C
ENST00000639777.1:n.661T>C
ENST00000639935.1:n.106-12T>C
ENST00000640030.1:c.9-12T>C	ENSP00000491411.1:n.9-12T>C
ENST00000640067.1:c.69-12T>C	ENSP00000491844.1:n.69-12T>C
ENST00000640423.1:n.78-12T>C
ENST00000640949.1:c.69-12T>C	ENSP00000492500.1:n.69-12T>C
ENST00000378585.5:c.69-12T>C	ENSP00000367848.4:n.69-12T>C
NM_000815.4:c.69-12T>C	NP_000806.2:n.69-12T>C
XM_011541194.1:c.108-12T>C	XP_011539496.1:n.108-12T>C
XM_011541194.3:c.108-12T>C	XP_011539496.1:n.108-12T>C
XM_017000936.1:c.762T>C	XP_016856425.1:p.Leu254=
NM_000815.5:c.69-12T>C MANE Select	NP_000806.2:n.69-12T>C