Canonical Allele Identifier: CA337955783

Gene: GABRD

Linked Data

• dbSNP Id: rs1355123538
• gnomAD v2: 1-1956488-T-C
• gnomAD v4: 1-2025049-T-C
• MyVariant Identifiers: chr1:g.1956488T>C (hg19) ; chr1:g.2025049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025049T>C , CM000663.2:g.2025049T>C	GRCh38
NC_000001.10:g.1956488T>C , CM000663.1:g.1956488T>C	GRCh37
NC_000001.9:g.1946348T>C	NCBI36
NG_008168.1:g.10721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.176T>C MANE Select	ENSP00000367848.4:p.Ile59Thr
ENST00000638411.1:c.176T>C	ENSP00000491632.1:p.Ile59Thr
ENST00000638604.1:n.240T>C
ENST00000638771.1:c.176T>C	ENSP00000492435.1:p.Ile59Thr
ENST00000639045.1:c.*162T>C	ENSP00000491997.1:n.*162T>C
ENST00000639777.1:n.780T>C
ENST00000639935.1:n.213T>C
ENST00000640030.1:c.116T>C	ENSP00000491411.1:p.Ile39Thr
ENST00000640067.1:c.176T>C	ENSP00000491844.1:p.Ile59Thr
ENST00000640423.1:n.185T>C
ENST00000640949.1:c.176T>C	ENSP00000492500.1:p.Ile59Thr
ENST00000378585.5:c.176T>C	ENSP00000367848.4:p.Ile59Thr
NM_000815.4:c.176T>C	NP_000806.2:p.Ile59Thr
XM_011541194.1:c.215T>C	XP_011539496.1:p.Ile72Thr
XM_011541194.3:c.215T>C	XP_011539496.1:p.Ile72Thr
XM_017000936.1:c.881T>C	XP_016856425.1:p.Ile294Thr
NM_000815.5:c.176T>C MANE Select	NP_000806.2:p.Ile59Thr