Canonical Allele Identifier: CA534515

Gene: GABRD

Linked Data

• ClinVar Variation Id: 1136315
• ClinVar RCV Id: RCV001471908
• dbSNP Id: rs768454474
• ExAC: 1:1956405 C / T
• gnomAD v2: 1-1956405-C-T
• gnomAD v3: 1-2024966-C-T
• gnomAD v4: 1-2024966-C-T
• MyVariant Identifiers: chr1:g.1956405C>T (hg19) ; chr1:g.2024966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024966C>T , CM000663.2:g.2024966C>T	GRCh38
NC_000001.10:g.1956405C>T , CM000663.1:g.1956405C>T	GRCh37
NC_000001.9:g.1946265C>T	NCBI36
NG_008168.1:g.10638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.93C>T MANE Select	ENSP00000367848.4:p.Tyr31=
ENST00000638411.1:c.93C>T	ENSP00000491632.1:p.Tyr31=
ENST00000638604.1:n.157C>T
ENST00000638771.1:c.93C>T	ENSP00000492435.1:p.Tyr31=
ENST00000639045.1:c.*79C>T	ENSP00000491997.1:n.*79C>T
ENST00000639777.1:n.697C>T
ENST00000639935.1:n.130C>T
ENST00000640030.1:c.33C>T	ENSP00000491411.1:p.Tyr11=
ENST00000640067.1:c.93C>T	ENSP00000491844.1:p.Tyr31=
ENST00000640423.1:n.102C>T
ENST00000640949.1:c.93C>T	ENSP00000492500.1:p.Tyr31=
ENST00000378585.5:c.93C>T	ENSP00000367848.4:p.Tyr31=
NM_000815.4:c.93C>T	NP_000806.2:p.Tyr31=
XM_011541194.1:c.132C>T	XP_011539496.1:p.Tyr44=
XM_011541194.3:c.132C>T	XP_011539496.1:p.Tyr44=
XM_017000936.1:c.798C>T	XP_016856425.1:p.Tyr266=
NM_000815.5:c.93C>T MANE Select	NP_000806.2:p.Tyr31=