Canonical Allele Identifier: CA337955453

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956422A>T (hg19) ; chr1:g.2024983A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024983A>T , CM000663.2:g.2024983A>T	GRCh38
NC_000001.10:g.1956422A>T , CM000663.1:g.1956422A>T	GRCh37
NC_000001.9:g.1946282A>T	NCBI36
NG_008168.1:g.10655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.110A>T MANE Select	ENSP00000367848.4:p.Glu37Val
ENST00000638411.1:c.110A>T	ENSP00000491632.1:p.Glu37Val
ENST00000638604.1:n.174A>T
ENST00000638771.1:c.110A>T	ENSP00000492435.1:p.Glu37Val
ENST00000639045.1:c.*96A>T	ENSP00000491997.1:n.*96A>T
ENST00000639777.1:n.714A>T
ENST00000639935.1:n.147A>T
ENST00000640030.1:c.50A>T	ENSP00000491411.1:p.Glu17Val
ENST00000640067.1:c.110A>T	ENSP00000491844.1:p.Glu37Val
ENST00000640423.1:n.119A>T
ENST00000640949.1:c.110A>T	ENSP00000492500.1:p.Glu37Val
ENST00000378585.5:c.110A>T	ENSP00000367848.4:p.Glu37Val
NM_000815.4:c.110A>T	NP_000806.2:p.Glu37Val
XM_011541194.1:c.149A>T	XP_011539496.1:p.Glu50Val
XM_011541194.3:c.149A>T	XP_011539496.1:p.Glu50Val
XM_017000936.1:c.815A>T	XP_016856425.1:p.Glu272Val
NM_000815.5:c.110A>T MANE Select	NP_000806.2:p.Glu37Val