Canonical Allele Identifier: CA337955272

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024961-G-T
• MyVariant Identifiers: chr1:g.1956400G>T (hg19) ; chr1:g.2024961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024961G>T , CM000663.2:g.2024961G>T	GRCh38
NC_000001.10:g.1956400G>T , CM000663.1:g.1956400G>T	GRCh37
NC_000001.9:g.1946260G>T	NCBI36
NG_008168.1:g.10633G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.88G>T MANE Select	ENSP00000367848.4:p.Asp30Tyr
ENST00000638411.1:c.88G>T	ENSP00000491632.1:p.Asp30Tyr
ENST00000638604.1:n.152G>T
ENST00000638771.1:c.88G>T	ENSP00000492435.1:p.Asp30Tyr
ENST00000639045.1:c.*74G>T	ENSP00000491997.1:n.*74G>T
ENST00000639777.1:n.692G>T
ENST00000639935.1:n.125G>T
ENST00000640030.1:c.28G>T	ENSP00000491411.1:p.Asp10Tyr
ENST00000640067.1:c.88G>T	ENSP00000491844.1:p.Asp30Tyr
ENST00000640423.1:n.97G>T
ENST00000640949.1:c.88G>T	ENSP00000492500.1:p.Asp30Tyr
ENST00000378585.5:c.88G>T	ENSP00000367848.4:p.Asp30Tyr
NM_000815.4:c.88G>T	NP_000806.2:p.Asp30Tyr
XM_011541194.1:c.127G>T	XP_011539496.1:p.Asp43Tyr
XM_011541194.3:c.127G>T	XP_011539496.1:p.Asp43Tyr
XM_017000936.1:c.793G>T	XP_016856425.1:p.Asp265Tyr
NM_000815.5:c.88G>T MANE Select	NP_000806.2:p.Asp30Tyr