Canonical Allele Identifier: CA337955222

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024955-A-C
• MyVariant Identifiers: chr1:g.1956394A>C (hg19) ; chr1:g.2024955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024955A>C , CM000663.2:g.2024955A>C	GRCh38
NC_000001.10:g.1956394A>C , CM000663.1:g.1956394A>C	GRCh37
NC_000001.9:g.1946254A>C	NCBI36
NG_008168.1:g.10627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.82A>C MANE Select	ENSP00000367848.4:p.Ile28Leu
ENST00000638411.1:c.82A>C	ENSP00000491632.1:p.Ile28Leu
ENST00000638604.1:n.146A>C
ENST00000638771.1:c.82A>C	ENSP00000492435.1:p.Ile28Leu
ENST00000639045.1:c.*68A>C	ENSP00000491997.1:n.*68A>C
ENST00000639777.1:n.686A>C
ENST00000639935.1:n.119A>C
ENST00000640030.1:c.22A>C	ENSP00000491411.1:p.Ile8Leu
ENST00000640067.1:c.82A>C	ENSP00000491844.1:p.Ile28Leu
ENST00000640423.1:n.91A>C
ENST00000640949.1:c.82A>C	ENSP00000492500.1:p.Ile28Leu
ENST00000378585.5:c.82A>C	ENSP00000367848.4:p.Ile28Leu
NM_000815.4:c.82A>C	NP_000806.2:p.Ile28Leu
XM_011541194.1:c.121A>C	XP_011539496.1:p.Ile41Leu
XM_011541194.3:c.121A>C	XP_011539496.1:p.Ile41Leu
XM_017000936.1:c.787A>C	XP_016856425.1:p.Ile263Leu
NM_000815.5:c.82A>C MANE Select	NP_000806.2:p.Ile28Leu