Canonical Allele Identifier: CA415448192

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956418C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024979C>T , CM000663.2:g.2024979C>T	GRCh38
NC_000001.10:g.1956418C>T , CM000663.1:g.1956418C>T	GRCh37
NC_000001.9:g.1946278C>T	NCBI36
NG_008168.1:g.10651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.106C>T MANE Select	ENSP00000367848.4:p.Leu36=
ENST00000638411.1:c.106C>T	ENSP00000491632.1:p.Leu36=
ENST00000638604.1:n.170C>T
ENST00000638771.1:c.106C>T	ENSP00000492435.1:p.Leu36=
ENST00000639045.1:c.*92C>T	ENSP00000491997.1:n.*92C>T
ENST00000639777.1:n.710C>T
ENST00000639935.1:n.143C>T
ENST00000640030.1:c.46C>T	ENSP00000491411.1:p.Leu16=
ENST00000640067.1:c.106C>T	ENSP00000491844.1:p.Leu36=
ENST00000640423.1:n.115C>T
ENST00000640949.1:c.106C>T	ENSP00000492500.1:p.Leu36=
ENST00000378585.5:c.106C>T	ENSP00000367848.4:p.Leu36=
NM_000815.4:c.106C>T	NP_000806.2:p.Leu36=
XM_011541194.1:c.145C>T	XP_011539496.1:p.Leu49=
XM_011541194.3:c.145C>T	XP_011539496.1:p.Leu49=
XM_017000936.1:c.811C>T	XP_016856425.1:p.Leu271=
NM_000815.5:c.106C>T MANE Select	NP_000806.2:p.Leu36=