Canonical Allele Identifier: CA337955646

Gene: GABRD

Linked Data

• dbSNP Id: rs1658879483
• gnomAD v4: 1-2025019-C-T
• COSMIC: COSM3863945
• MyVariant Identifiers: chr1:g.1956458C>T (hg19) ; chr1:g.2025019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025019C>T , CM000663.2:g.2025019C>T	GRCh38
NC_000001.10:g.1956458C>T , CM000663.1:g.1956458C>T	GRCh37
NC_000001.9:g.1946318C>T	NCBI36
NG_008168.1:g.10691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.146C>T MANE Select	ENSP00000367848.4:p.Ala49Val
ENST00000638411.1:c.146C>T	ENSP00000491632.1:p.Ala49Val
ENST00000638604.1:n.210C>T
ENST00000638771.1:c.146C>T	ENSP00000492435.1:p.Ala49Val
ENST00000639045.1:c.*132C>T	ENSP00000491997.1:n.*132C>T
ENST00000639777.1:n.750C>T
ENST00000639935.1:n.183C>T
ENST00000640030.1:c.86C>T	ENSP00000491411.1:p.Ala29Val
ENST00000640067.1:c.146C>T	ENSP00000491844.1:p.Ala49Val
ENST00000640423.1:n.155C>T
ENST00000640949.1:c.146C>T	ENSP00000492500.1:p.Ala49Val
ENST00000378585.5:c.146C>T	ENSP00000367848.4:p.Ala49Val
NM_000815.4:c.146C>T	NP_000806.2:p.Ala49Val
XM_011541194.1:c.185C>T	XP_011539496.1:p.Ala62Val
XM_011541194.3:c.185C>T	XP_011539496.1:p.Ala62Val
XM_017000936.1:c.851C>T	XP_016856425.1:p.Ala284Val
NM_000815.5:c.146C>T MANE Select	NP_000806.2:p.Ala49Val