Canonical Allele Identifier: CA337955237

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024957-C-G
• MyVariant Identifiers: chr1:g.1956396C>G (hg19) ; chr1:g.2024957C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024957C>G , CM000663.2:g.2024957C>G	GRCh38
NC_000001.10:g.1956396C>G , CM000663.1:g.1956396C>G	GRCh37
NC_000001.9:g.1946256C>G	NCBI36
NG_008168.1:g.10629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.84C>G MANE Select	ENSP00000367848.4:p.Ile28Met
ENST00000638411.1:c.84C>G	ENSP00000491632.1:p.Ile28Met
ENST00000638604.1:n.148C>G
ENST00000638771.1:c.84C>G	ENSP00000492435.1:p.Ile28Met
ENST00000639045.1:c.*70C>G	ENSP00000491997.1:n.*70C>G
ENST00000639777.1:n.688C>G
ENST00000639935.1:n.121C>G
ENST00000640030.1:c.24C>G	ENSP00000491411.1:p.Ile8Met
ENST00000640067.1:c.84C>G	ENSP00000491844.1:p.Ile28Met
ENST00000640423.1:n.93C>G
ENST00000640949.1:c.84C>G	ENSP00000492500.1:p.Ile28Met
ENST00000378585.5:c.84C>G	ENSP00000367848.4:p.Ile28Met
NM_000815.4:c.84C>G	NP_000806.2:p.Ile28Met
XM_011541194.1:c.123C>G	XP_011539496.1:p.Ile41Met
XM_011541194.3:c.123C>G	XP_011539496.1:p.Ile41Met
XM_017000936.1:c.789C>G	XP_016856425.1:p.Ile263Met
NM_000815.5:c.84C>G MANE Select	NP_000806.2:p.Ile28Met