Canonical Allele Identifier: CA337955415

Gene: GABRD

Linked Data

• ClinVar Variation Id: 2093421
• ClinVar RCV Id: RCV003018723
• MyVariant Identifiers: chr1:g.1956416A>G (hg19) ; chr1:g.2024977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024977A>G , CM000663.2:g.2024977A>G	GRCh38
NC_000001.10:g.1956416A>G , CM000663.1:g.1956416A>G	GRCh37
NC_000001.9:g.1946276A>G	NCBI36
NG_008168.1:g.10649A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.104A>G MANE Select	ENSP00000367848.4:p.Asn35Ser
ENST00000638411.1:c.104A>G	ENSP00000491632.1:p.Asn35Ser
ENST00000638604.1:n.168A>G
ENST00000638771.1:c.104A>G	ENSP00000492435.1:p.Asn35Ser
ENST00000639045.1:c.*90A>G	ENSP00000491997.1:n.*90A>G
ENST00000639777.1:n.708A>G
ENST00000639935.1:n.141A>G
ENST00000640030.1:c.44A>G	ENSP00000491411.1:p.Asn15Ser
ENST00000640067.1:c.104A>G	ENSP00000491844.1:p.Asn35Ser
ENST00000640423.1:n.113A>G
ENST00000640949.1:c.104A>G	ENSP00000492500.1:p.Asn35Ser
ENST00000378585.5:c.104A>G	ENSP00000367848.4:p.Asn35Ser
NM_000815.4:c.104A>G	NP_000806.2:p.Asn35Ser
XM_011541194.1:c.143A>G	XP_011539496.1:p.Asn48Ser
XM_011541194.3:c.143A>G	XP_011539496.1:p.Asn48Ser
XM_017000936.1:c.809A>G	XP_016856425.1:p.Asn270Ser
NM_000815.5:c.104A>G MANE Select	NP_000806.2:p.Asn35Ser