Canonical Allele Identifier: CA415448319

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025005-G-A
• MyVariant Identifiers: chr1:g.1956444G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025005G>A , CM000663.2:g.2025005G>A	GRCh38
NC_000001.10:g.1956444G>A , CM000663.1:g.1956444G>A	GRCh37
NC_000001.9:g.1946304G>A	NCBI36
NG_008168.1:g.10677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.132G>A MANE Select	ENSP00000367848.4:p.Leu44=
ENST00000638411.1:c.132G>A	ENSP00000491632.1:p.Leu44=
ENST00000638604.1:n.196G>A
ENST00000638771.1:c.132G>A	ENSP00000492435.1:p.Leu44=
ENST00000639045.1:c.*118G>A	ENSP00000491997.1:n.*118G>A
ENST00000639777.1:n.736G>A
ENST00000639935.1:n.169G>A
ENST00000640030.1:c.72G>A	ENSP00000491411.1:p.Leu24=
ENST00000640067.1:c.132G>A	ENSP00000491844.1:p.Leu44=
ENST00000640423.1:n.141G>A
ENST00000640949.1:c.132G>A	ENSP00000492500.1:p.Leu44=
ENST00000378585.5:c.132G>A	ENSP00000367848.4:p.Leu44=
NM_000815.4:c.132G>A	NP_000806.2:p.Leu44=
XM_011541194.1:c.171G>A	XP_011539496.1:p.Leu57=
XM_011541194.3:c.171G>A	XP_011539496.1:p.Leu57=
XM_017000936.1:c.837G>A	XP_016856425.1:p.Leu279=
NM_000815.5:c.132G>A MANE Select	NP_000806.2:p.Leu44=