Canonical Allele Identifier: CA534537

Gene: GABRD

Linked Data

• ClinVar Variation Id: 1597486
• ClinVar RCV Id: RCV002127207
• dbSNP Id: rs753987467
• ExAC: 1:1956513 C / T
• gnomAD v2: 1-1956513-C-T
• gnomAD v3: 1-2025074-C-T
• gnomAD v4: 1-2025074-C-T
• MyVariant Identifiers: chr1:g.1956513C>T (hg19) ; chr1:g.2025074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025074C>T , CM000663.2:g.2025074C>T	GRCh38
NC_000001.10:g.1956513C>T , CM000663.1:g.1956513C>T	GRCh37
NC_000001.9:g.1946373C>T	NCBI36
NG_008168.1:g.10746C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+20C>T MANE Select	ENSP00000367848.4:n.181+20C>T
ENST00000638411.1:c.181+20C>T	ENSP00000491632.1:n.181+20C>T
ENST00000638604.1:n.245+20C>T
ENST00000638771.1:c.181+20C>T	ENSP00000492435.1:n.181+20C>T
ENST00000639045.1:c.*167+20C>T	ENSP00000491997.1:n.*167+20C>T
ENST00000639777.1:n.785+20C>T
ENST00000639935.1:n.218+20C>T
ENST00000640030.1:c.121+20C>T	ENSP00000491411.1:n.121+20C>T
ENST00000640067.1:c.181+20C>T	ENSP00000491844.1:n.181+20C>T
ENST00000640423.1:n.190+20C>T
ENST00000640949.1:c.181+20C>T	ENSP00000492500.1:n.181+20C>T
ENST00000378585.5:c.181+20C>T	ENSP00000367848.4:n.181+20C>T
NM_000815.4:c.181+20C>T	NP_000806.2:n.181+20C>T
XM_011541194.1:c.220+20C>T	XP_011539496.1:n.220+20C>T
XM_011541194.3:c.220+20C>T	XP_011539496.1:n.220+20C>T
XM_017000936.1:c.886+20C>T	XP_016856425.1:n.886+20C>T
NM_000815.5:c.181+20C>T MANE Select	NP_000806.2:n.181+20C>T