Canonical Allele Identifier: CA534507

Gene: GABRD

Linked Data

• dbSNP Id: rs576499648
• ExAC: 1:1956382 G / C
• gnomAD v2: 1-1956382-G-C
• gnomAD v4: 1-2024943-G-C
• MyVariant Identifiers: chr1:g.1956382G>C (hg19) ; chr1:g.2024943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024943G>C , CM000663.2:g.2024943G>C	GRCh38
NC_000001.10:g.1956382G>C , CM000663.1:g.1956382G>C	GRCh37
NC_000001.9:g.1946242G>C	NCBI36
NG_008168.1:g.10615G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.70G>C MANE Select	ENSP00000367848.4:p.Ala24Pro
ENST00000638411.1:c.70G>C	ENSP00000491632.1:p.Ala24Pro
ENST00000638604.1:n.134G>C
ENST00000638771.1:c.70G>C	ENSP00000492435.1:p.Ala24Pro
ENST00000639045.1:c.*56G>C	ENSP00000491997.1:n.*56G>C
ENST00000639777.1:n.674G>C
ENST00000639935.1:n.107G>C
ENST00000640030.1:c.10G>C	ENSP00000491411.1:p.Ala4Pro
ENST00000640067.1:c.70G>C	ENSP00000491844.1:p.Ala24Pro
ENST00000640423.1:n.79G>C
ENST00000640949.1:c.70G>C	ENSP00000492500.1:p.Ala24Pro
ENST00000378585.5:c.70G>C	ENSP00000367848.4:p.Ala24Pro
NM_000815.4:c.70G>C	NP_000806.2:p.Ala24Pro
XM_011541194.1:c.109G>C	XP_011539496.1:p.Ala37Pro
XM_011541194.3:c.109G>C	XP_011539496.1:p.Ala37Pro
XM_017000936.1:c.775G>C	XP_016856425.1:p.Ala259Pro
NM_000815.5:c.70G>C MANE Select	NP_000806.2:p.Ala24Pro