Canonical Allele Identifier: CA534497

Gene: GABRD

Linked Data

• dbSNP Id: rs761340378
• ExAC: 1:1956358 G / C
• gnomAD v2: 1-1956358-G-C
• gnomAD v4: 1-2024919-G-C
• MyVariant Identifiers: chr1:g.1956358G>C (hg19) ; chr1:g.2024919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024919G>C , CM000663.2:g.2024919G>C	GRCh38
NC_000001.10:g.1956358G>C , CM000663.1:g.1956358G>C	GRCh37
NC_000001.9:g.1946218G>C	NCBI36
NG_008168.1:g.10591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-23G>C MANE Select	ENSP00000367848.4:n.69-23G>C
ENST00000638411.1:c.69-23G>C	ENSP00000491632.1:n.69-23G>C
ENST00000638604.1:n.133-23G>C
ENST00000638771.1:c.69-23G>C	ENSP00000492435.1:n.69-23G>C
ENST00000639045.1:c.*55-23G>C	ENSP00000491997.1:n.*55-23G>C
ENST00000639777.1:n.650G>C
ENST00000639935.1:n.106-23G>C
ENST00000640030.1:c.9-23G>C	ENSP00000491411.1:n.9-23G>C
ENST00000640067.1:c.69-23G>C	ENSP00000491844.1:n.69-23G>C
ENST00000640423.1:n.78-23G>C
ENST00000640949.1:c.69-23G>C	ENSP00000492500.1:n.69-23G>C
ENST00000378585.5:c.69-23G>C	ENSP00000367848.4:n.69-23G>C
NM_000815.4:c.69-23G>C	NP_000806.2:n.69-23G>C
XM_011541194.1:c.108-23G>C	XP_011539496.1:n.108-23G>C
XM_011541194.3:c.108-23G>C	XP_011539496.1:n.108-23G>C
XM_017000936.1:c.751G>C	XP_016856425.1:p.Asp251His
NM_000815.5:c.69-23G>C MANE Select	NP_000806.2:n.69-23G>C