Canonical Allele Identifier: CA534522

Gene: GABRD

Linked Data

• ClinVar Variation Id: 761686
• ClinVar RCV Id: RCV003523049
• dbSNP Id: rs754323369
• ExAC: 1:1956447 C / T
• gnomAD v2: 1-1956447-C-T
• gnomAD v4: 1-2025008-C-T
• COSMIC: COSM3689237
• MyVariant Identifiers: chr1:g.1956447C>T (hg19) ; chr1:g.2025008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025008C>T , CM000663.2:g.2025008C>T	GRCh38
NC_000001.10:g.1956447C>T , CM000663.1:g.1956447C>T	GRCh37
NC_000001.9:g.1946307C>T	NCBI36
NG_008168.1:g.10680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.135C>T MANE Select	ENSP00000367848.4:p.Asp45=
ENST00000638411.1:c.135C>T	ENSP00000491632.1:p.Asp45=
ENST00000638604.1:n.199C>T
ENST00000638771.1:c.135C>T	ENSP00000492435.1:p.Asp45=
ENST00000639045.1:c.*121C>T	ENSP00000491997.1:n.*121C>T
ENST00000639777.1:n.739C>T
ENST00000639935.1:n.172C>T
ENST00000640030.1:c.75C>T	ENSP00000491411.1:p.Asp25=
ENST00000640067.1:c.135C>T	ENSP00000491844.1:p.Asp45=
ENST00000640423.1:n.144C>T
ENST00000640949.1:c.135C>T	ENSP00000492500.1:p.Asp45=
ENST00000378585.5:c.135C>T	ENSP00000367848.4:p.Asp45=
NM_000815.4:c.135C>T	NP_000806.2:p.Asp45=
XM_011541194.1:c.174C>T	XP_011539496.1:p.Asp58=
XM_011541194.3:c.174C>T	XP_011539496.1:p.Asp58=
XM_017000936.1:c.840C>T	XP_016856425.1:p.Asp280=
NM_000815.5:c.135C>T MANE Select	NP_000806.2:p.Asp45=