Canonical Allele Identifier: CA337955624

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956452T>C (hg19) ; chr1:g.2025013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025013T>C , CM000663.2:g.2025013T>C	GRCh38
NC_000001.10:g.1956452T>C , CM000663.1:g.1956452T>C	GRCh37
NC_000001.9:g.1946312T>C	NCBI36
NG_008168.1:g.10685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.140T>C MANE Select	ENSP00000367848.4:p.Leu47Pro
ENST00000638411.1:c.140T>C	ENSP00000491632.1:p.Leu47Pro
ENST00000638604.1:n.204T>C
ENST00000638771.1:c.140T>C	ENSP00000492435.1:p.Leu47Pro
ENST00000639045.1:c.*126T>C	ENSP00000491997.1:n.*126T>C
ENST00000639777.1:n.744T>C
ENST00000639935.1:n.177T>C
ENST00000640030.1:c.80T>C	ENSP00000491411.1:p.Leu27Pro
ENST00000640067.1:c.140T>C	ENSP00000491844.1:p.Leu47Pro
ENST00000640423.1:n.149T>C
ENST00000640949.1:c.140T>C	ENSP00000492500.1:p.Leu47Pro
ENST00000378585.5:c.140T>C	ENSP00000367848.4:p.Leu47Pro
NM_000815.4:c.140T>C	NP_000806.2:p.Leu47Pro
XM_011541194.1:c.179T>C	XP_011539496.1:p.Leu60Pro
XM_011541194.3:c.179T>C	XP_011539496.1:p.Leu60Pro
XM_017000936.1:c.845T>C	XP_016856425.1:p.Leu282Pro
NM_000815.5:c.140T>C MANE Select	NP_000806.2:p.Leu47Pro