Canonical Allele Identifier: CA337955388

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956413C>A (hg19) ; chr1:g.2024974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024974C>A , CM000663.2:g.2024974C>A	GRCh38
NC_000001.10:g.1956413C>A , CM000663.1:g.1956413C>A	GRCh37
NC_000001.9:g.1946273C>A	NCBI36
NG_008168.1:g.10646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.101C>A MANE Select	ENSP00000367848.4:p.Ser34Tyr
ENST00000638411.1:c.101C>A	ENSP00000491632.1:p.Ser34Tyr
ENST00000638604.1:n.165C>A
ENST00000638771.1:c.101C>A	ENSP00000492435.1:p.Ser34Tyr
ENST00000639045.1:c.*87C>A	ENSP00000491997.1:n.*87C>A
ENST00000639777.1:n.705C>A
ENST00000639935.1:n.138C>A
ENST00000640030.1:c.41C>A	ENSP00000491411.1:p.Ser14Tyr
ENST00000640067.1:c.101C>A	ENSP00000491844.1:p.Ser34Tyr
ENST00000640423.1:n.110C>A
ENST00000640949.1:c.101C>A	ENSP00000492500.1:p.Ser34Tyr
ENST00000378585.5:c.101C>A	ENSP00000367848.4:p.Ser34Tyr
NM_000815.4:c.101C>A	NP_000806.2:p.Ser34Tyr
XM_011541194.1:c.140C>A	XP_011539496.1:p.Ser47Tyr
XM_011541194.3:c.140C>A	XP_011539496.1:p.Ser47Tyr
XM_017000936.1:c.806C>A	XP_016856425.1:p.Ser269Tyr
NM_000815.5:c.101C>A MANE Select	NP_000806.2:p.Ser34Tyr