Canonical Allele Identifier: CA415448415

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956471C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025032C>T , CM000663.2:g.2025032C>T	GRCh38
NC_000001.10:g.1956471C>T , CM000663.1:g.1956471C>T	GRCh37
NC_000001.9:g.1946331C>T	NCBI36
NG_008168.1:g.10704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.159C>T MANE Select	ENSP00000367848.4:p.Arg53=
ENST00000638411.1:c.159C>T	ENSP00000491632.1:p.Arg53=
ENST00000638604.1:n.223C>T
ENST00000638771.1:c.159C>T	ENSP00000492435.1:p.Arg53=
ENST00000639045.1:c.*145C>T	ENSP00000491997.1:n.*145C>T
ENST00000639777.1:n.763C>T
ENST00000639935.1:n.196C>T
ENST00000640030.1:c.99C>T	ENSP00000491411.1:p.Arg33=
ENST00000640067.1:c.159C>T	ENSP00000491844.1:p.Arg53=
ENST00000640423.1:n.168C>T
ENST00000640949.1:c.159C>T	ENSP00000492500.1:p.Arg53=
ENST00000378585.5:c.159C>T	ENSP00000367848.4:p.Arg53=
NM_000815.4:c.159C>T	NP_000806.2:p.Arg53=
XM_011541194.1:c.198C>T	XP_011539496.1:p.Arg66=
XM_011541194.3:c.198C>T	XP_011539496.1:p.Arg66=
XM_017000936.1:c.864C>T	XP_016856425.1:p.Arg288=
NM_000815.5:c.159C>T MANE Select	NP_000806.2:p.Arg53=