Canonical Allele Identifier: CA534533

Gene: GABRD

Linked Data

• ClinVar Variation Id: 1152650
• ClinVar RCV Id: RCV001494059
• dbSNP Id: rs774122718
• ExAC: 1:1956503 G / C
• gnomAD v2: 1-1956503-G-C
• gnomAD v3: 1-2025064-G-C
• gnomAD v4: 1-2025064-G-C
• MyVariant Identifiers: chr1:g.1956503G>C (hg19) ; chr1:g.2025064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025064G>C , CM000663.2:g.2025064G>C	GRCh38
NC_000001.10:g.1956503G>C , CM000663.1:g.1956503G>C	GRCh37
NC_000001.9:g.1946363G>C	NCBI36
NG_008168.1:g.10736G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+10G>C MANE Select	ENSP00000367848.4:n.181+10G>C
ENST00000638411.1:c.181+10G>C	ENSP00000491632.1:n.181+10G>C
ENST00000638604.1:n.245+10G>C
ENST00000638771.1:c.181+10G>C	ENSP00000492435.1:n.181+10G>C
ENST00000639045.1:c.*167+10G>C	ENSP00000491997.1:n.*167+10G>C
ENST00000639777.1:n.785+10G>C
ENST00000639935.1:n.218+10G>C
ENST00000640030.1:c.121+10G>C	ENSP00000491411.1:n.121+10G>C
ENST00000640067.1:c.181+10G>C	ENSP00000491844.1:n.181+10G>C
ENST00000640423.1:n.190+10G>C
ENST00000640949.1:c.181+10G>C	ENSP00000492500.1:n.181+10G>C
ENST00000378585.5:c.181+10G>C	ENSP00000367848.4:n.181+10G>C
NM_000815.4:c.181+10G>C	NP_000806.2:n.181+10G>C
XM_011541194.1:c.220+10G>C	XP_011539496.1:n.220+10G>C
XM_011541194.3:c.220+10G>C	XP_011539496.1:n.220+10G>C
XM_017000936.1:c.886+10G>C	XP_016856425.1:n.886+10G>C
NM_000815.5:c.181+10G>C MANE Select	NP_000806.2:n.181+10G>C