Canonical Allele Identifier: CA415448280

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956438C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024999C>T , CM000663.2:g.2024999C>T	GRCh38
NC_000001.10:g.1956438C>T , CM000663.1:g.1956438C>T	GRCh37
NC_000001.9:g.1946298C>T	NCBI36
NG_008168.1:g.10671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.126C>T MANE Select	ENSP00000367848.4:p.Pro42=
ENST00000638411.1:c.126C>T	ENSP00000491632.1:p.Pro42=
ENST00000638604.1:n.190C>T
ENST00000638771.1:c.126C>T	ENSP00000492435.1:p.Pro42=
ENST00000639045.1:c.*112C>T	ENSP00000491997.1:n.*112C>T
ENST00000639777.1:n.730C>T
ENST00000639935.1:n.163C>T
ENST00000640030.1:c.66C>T	ENSP00000491411.1:p.Pro22=
ENST00000640067.1:c.126C>T	ENSP00000491844.1:p.Pro42=
ENST00000640423.1:n.135C>T
ENST00000640949.1:c.126C>T	ENSP00000492500.1:p.Pro42=
ENST00000378585.5:c.126C>T	ENSP00000367848.4:p.Pro42=
NM_000815.4:c.126C>T	NP_000806.2:p.Pro42=
XM_011541194.1:c.165C>T	XP_011539496.1:p.Pro55=
XM_011541194.3:c.165C>T	XP_011539496.1:p.Pro55=
XM_017000936.1:c.831C>T	XP_016856425.1:p.Pro277=
NM_000815.5:c.126C>T MANE Select	NP_000806.2:p.Pro42=