Canonical Allele Identifier: CA534525

Gene: GABRD

Linked Data

• ClinVar Variation Id: 1092102
• ClinVar RCV Id: RCV001411846
• dbSNP Id: rs148496176
• ExAC: 1:1956465 C / T
• gnomAD v2: 1-1956465-C-T
• gnomAD v3: 1-2025026-C-T
• gnomAD v4: 1-2025026-C-T
• COSMIC: COSM4127617
• MyVariant Identifiers: chr1:g.1956465C>T (hg19) ; chr1:g.2025026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025026C>T , CM000663.2:g.2025026C>T	GRCh38
NC_000001.10:g.1956465C>T , CM000663.1:g.1956465C>T	GRCh37
NC_000001.9:g.1946325C>T	NCBI36
NG_008168.1:g.10698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.153C>T MANE Select	ENSP00000367848.4:p.Tyr51=
ENST00000638411.1:c.153C>T	ENSP00000491632.1:p.Tyr51=
ENST00000638604.1:n.217C>T
ENST00000638771.1:c.153C>T	ENSP00000492435.1:p.Tyr51=
ENST00000639045.1:c.*139C>T	ENSP00000491997.1:n.*139C>T
ENST00000639777.1:n.757C>T
ENST00000639935.1:n.190C>T
ENST00000640030.1:c.93C>T	ENSP00000491411.1:p.Tyr31=
ENST00000640067.1:c.153C>T	ENSP00000491844.1:p.Tyr51=
ENST00000640423.1:n.162C>T
ENST00000640949.1:c.153C>T	ENSP00000492500.1:p.Tyr51=
ENST00000378585.5:c.153C>T	ENSP00000367848.4:p.Tyr51=
NM_000815.4:c.153C>T	NP_000806.2:p.Tyr51=
XM_011541194.1:c.192C>T	XP_011539496.1:p.Tyr64=
XM_011541194.3:c.192C>T	XP_011539496.1:p.Tyr64=
XM_017000936.1:c.858C>T	XP_016856425.1:p.Tyr286=
NM_000815.5:c.153C>T MANE Select	NP_000806.2:p.Tyr51=