Canonical Allele Identifier: CA2642691005

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025112-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025112G>T , CM000663.2:g.2025112G>T	GRCh38
NC_000001.10:g.1956551G>T , CM000663.1:g.1956551G>T	GRCh37
NC_000001.9:g.1946411G>T	NCBI36
NG_008168.1:g.10784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+58G>T MANE Select	ENSP00000367848.4:n.181+58G>T
ENST00000638411.1:c.181+58G>T	ENSP00000491632.1:n.181+58G>T
ENST00000638604.1:n.245+58G>T
ENST00000638771.1:c.181+58G>T	ENSP00000492435.1:n.181+58G>T
ENST00000639045.1:c.*167+58G>T	ENSP00000491997.1:n.*167+58G>T
ENST00000639777.1:n.785+58G>T
ENST00000639935.1:n.218+58G>T
ENST00000640030.1:c.121+58G>T	ENSP00000491411.1:n.121+58G>T
ENST00000640067.1:c.181+58G>T	ENSP00000491844.1:n.181+58G>T
ENST00000640423.1:n.190+58G>T
ENST00000640949.1:c.181+58G>T	ENSP00000492500.1:n.181+58G>T
ENST00000378585.5:c.181+58G>T	ENSP00000367848.4:n.181+58G>T
NM_000815.4:c.181+58G>T	NP_000806.2:n.181+58G>T
XM_011541194.1:c.220+58G>T	XP_011539496.1:n.220+58G>T
XM_011541194.3:c.220+58G>T	XP_011539496.1:n.220+58G>T
XM_017000936.1:c.886+58G>T	XP_016856425.1:n.886+58G>T
NM_000815.5:c.181+58G>T MANE Select	NP_000806.2:n.181+58G>T