Canonical Allele Identifier: CA415448345

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956451C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025012C>T , CM000663.2:g.2025012C>T	GRCh38
NC_000001.10:g.1956451C>T , CM000663.1:g.1956451C>T	GRCh37
NC_000001.9:g.1946311C>T	NCBI36
NG_008168.1:g.10684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.139C>T MANE Select	ENSP00000367848.4:p.Leu47=
ENST00000638411.1:c.139C>T	ENSP00000491632.1:p.Leu47=
ENST00000638604.1:n.203C>T
ENST00000638771.1:c.139C>T	ENSP00000492435.1:p.Leu47=
ENST00000639045.1:c.*125C>T	ENSP00000491997.1:n.*125C>T
ENST00000639777.1:n.743C>T
ENST00000639935.1:n.176C>T
ENST00000640030.1:c.79C>T	ENSP00000491411.1:p.Leu27=
ENST00000640067.1:c.139C>T	ENSP00000491844.1:p.Leu47=
ENST00000640423.1:n.148C>T
ENST00000640949.1:c.139C>T	ENSP00000492500.1:p.Leu47=
ENST00000378585.5:c.139C>T	ENSP00000367848.4:p.Leu47=
NM_000815.4:c.139C>T	NP_000806.2:p.Leu47=
XM_011541194.1:c.178C>T	XP_011539496.1:p.Leu60=
XM_011541194.3:c.178C>T	XP_011539496.1:p.Leu60=
XM_017000936.1:c.844C>T	XP_016856425.1:p.Leu282=
NM_000815.5:c.139C>T MANE Select	NP_000806.2:p.Leu47=