Canonical Allele Identifier: CA337955458

Gene: GABRD

Linked Data

• dbSNP Id: rs1219337842
• gnomAD v2: 1-1956423-G-T
• gnomAD v3: 1-2024984-G-T
• gnomAD v4: 1-2024984-G-T
• MyVariant Identifiers: chr1:g.1956423G>T (hg19) ; chr1:g.2024984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024984G>T , CM000663.2:g.2024984G>T	GRCh38
NC_000001.10:g.1956423G>T , CM000663.1:g.1956423G>T	GRCh37
NC_000001.9:g.1946283G>T	NCBI36
NG_008168.1:g.10656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.111G>T MANE Select	ENSP00000367848.4:p.Glu37Asp
ENST00000638411.1:c.111G>T	ENSP00000491632.1:p.Glu37Asp
ENST00000638604.1:n.175G>T
ENST00000638771.1:c.111G>T	ENSP00000492435.1:p.Glu37Asp
ENST00000639045.1:c.*97G>T	ENSP00000491997.1:n.*97G>T
ENST00000639777.1:n.715G>T
ENST00000639935.1:n.148G>T
ENST00000640030.1:c.51G>T	ENSP00000491411.1:p.Glu17Asp
ENST00000640067.1:c.111G>T	ENSP00000491844.1:p.Glu37Asp
ENST00000640423.1:n.120G>T
ENST00000640949.1:c.111G>T	ENSP00000492500.1:p.Glu37Asp
ENST00000378585.5:c.111G>T	ENSP00000367848.4:p.Glu37Asp
NM_000815.4:c.111G>T	NP_000806.2:p.Glu37Asp
XM_011541194.1:c.150G>T	XP_011539496.1:p.Glu50Asp
XM_011541194.3:c.150G>T	XP_011539496.1:p.Glu50Asp
XM_017000936.1:c.816G>T	XP_016856425.1:p.Glu272Asp
NM_000815.5:c.111G>T MANE Select	NP_000806.2:p.Glu37Asp