Canonical Allele Identifier: CA534519

Gene: GABRD

Linked Data

• dbSNP Id: rs772707280
• ExAC: 1:1956419 T / G
• gnomAD v2: 1-1956419-T-G
• gnomAD v3: 1-2024980-T-G
• gnomAD v4: 1-2024980-T-G
• MyVariant Identifiers: chr1:g.1956419T>G (hg19) ; chr1:g.2024980T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024980T>G , CM000663.2:g.2024980T>G	GRCh38
NC_000001.10:g.1956419T>G , CM000663.1:g.1956419T>G	GRCh37
NC_000001.9:g.1946279T>G	NCBI36
NG_008168.1:g.10652T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.107T>G MANE Select	ENSP00000367848.4:p.Leu36Arg
ENST00000638411.1:c.107T>G	ENSP00000491632.1:p.Leu36Arg
ENST00000638604.1:n.171T>G
ENST00000638771.1:c.107T>G	ENSP00000492435.1:p.Leu36Arg
ENST00000639045.1:c.*93T>G	ENSP00000491997.1:n.*93T>G
ENST00000639777.1:n.711T>G
ENST00000639935.1:n.144T>G
ENST00000640030.1:c.47T>G	ENSP00000491411.1:p.Leu16Arg
ENST00000640067.1:c.107T>G	ENSP00000491844.1:p.Leu36Arg
ENST00000640423.1:n.116T>G
ENST00000640949.1:c.107T>G	ENSP00000492500.1:p.Leu36Arg
ENST00000378585.5:c.107T>G	ENSP00000367848.4:p.Leu36Arg
NM_000815.4:c.107T>G	NP_000806.2:p.Leu36Arg
XM_011541194.1:c.146T>G	XP_011539496.1:p.Leu49Arg
XM_011541194.3:c.146T>G	XP_011539496.1:p.Leu49Arg
XM_017000936.1:c.812T>G	XP_016856425.1:p.Leu271Arg
NM_000815.5:c.107T>G MANE Select	NP_000806.2:p.Leu36Arg