Canonical Allele Identifier: CA337955814

Gene: GABRD

Linked Data

• dbSNP Id: rs1571027247
• gnomAD v4: 1-2025056-T-G
• MyVariant Identifiers: chr1:g.1956495T>G (hg19) ; chr1:g.2025056T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025056T>G , CM000663.2:g.2025056T>G	GRCh38
NC_000001.10:g.1956495T>G , CM000663.1:g.1956495T>G	GRCh37
NC_000001.9:g.1946355T>G	NCBI36
NG_008168.1:g.10728T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+2T>G MANE Select	ENSP00000367848.4:n.181+2T>G
ENST00000638411.1:c.181+2T>G	ENSP00000491632.1:n.181+2T>G
ENST00000638604.1:n.245+2T>G
ENST00000638771.1:c.181+2T>G	ENSP00000492435.1:n.181+2T>G
ENST00000639045.1:c.*167+2T>G	ENSP00000491997.1:n.*167+2T>G
ENST00000639777.1:n.785+2T>G
ENST00000639935.1:n.218+2T>G
ENST00000640030.1:c.121+2T>G	ENSP00000491411.1:n.121+2T>G
ENST00000640067.1:c.181+2T>G	ENSP00000491844.1:n.181+2T>G
ENST00000640423.1:n.190+2T>G
ENST00000640949.1:c.181+2T>G	ENSP00000492500.1:n.181+2T>G
ENST00000378585.5:c.181+2T>G	ENSP00000367848.4:n.181+2T>G
NM_000815.4:c.181+2T>G	NP_000806.2:n.181+2T>G
XM_011541194.1:c.220+2T>G	XP_011539496.1:n.220+2T>G
XM_011541194.3:c.220+2T>G	XP_011539496.1:n.220+2T>G
XM_017000936.1:c.886+2T>G	XP_016856425.1:n.886+2T>G
NM_000815.5:c.181+2T>G MANE Select	NP_000806.2:n.181+2T>G