Canonical Allele Identifier: CA337955519

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956432G>C (hg19) ; chr1:g.2024993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024993G>C , CM000663.2:g.2024993G>C	GRCh38
NC_000001.10:g.1956432G>C , CM000663.1:g.1956432G>C	GRCh37
NC_000001.9:g.1946292G>C	NCBI36
NG_008168.1:g.10665G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.120G>C MANE Select	ENSP00000367848.4:p.Trp40Cys
ENST00000638411.1:c.120G>C	ENSP00000491632.1:p.Trp40Cys
ENST00000638604.1:n.184G>C
ENST00000638771.1:c.120G>C	ENSP00000492435.1:p.Trp40Cys
ENST00000639045.1:c.*106G>C	ENSP00000491997.1:n.*106G>C
ENST00000639777.1:n.724G>C
ENST00000639935.1:n.157G>C
ENST00000640030.1:c.60G>C	ENSP00000491411.1:p.Trp20Cys
ENST00000640067.1:c.120G>C	ENSP00000491844.1:p.Trp40Cys
ENST00000640423.1:n.129G>C
ENST00000640949.1:c.120G>C	ENSP00000492500.1:p.Trp40Cys
ENST00000378585.5:c.120G>C	ENSP00000367848.4:p.Trp40Cys
NM_000815.4:c.120G>C	NP_000806.2:p.Trp40Cys
XM_011541194.1:c.159G>C	XP_011539496.1:p.Trp53Cys
XM_011541194.3:c.159G>C	XP_011539496.1:p.Trp53Cys
XM_017000936.1:c.825G>C	XP_016856425.1:p.Trp275Cys
NM_000815.5:c.120G>C MANE Select	NP_000806.2:p.Trp40Cys