Canonical Allele Identifier: CA730158207

Gene: GABRD

Linked Data

• dbSNP Id: rs1227314678
• gnomAD v3: 1-2025114-T-C
• gnomAD v4: 1-2025114-T-C
• MyVariant Identifiers: chr1:g.1956553T>C (hg19) ; chr1:g.2025114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025114T>C , CM000663.2:g.2025114T>C	GRCh38
NC_000001.10:g.1956553T>C , CM000663.1:g.1956553T>C	GRCh37
NC_000001.9:g.1946413T>C	NCBI36
NG_008168.1:g.10786T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+60T>C MANE Select	ENSP00000367848.4:n.181+60T>C
ENST00000638411.1:c.181+60T>C	ENSP00000491632.1:n.181+60T>C
ENST00000638604.1:n.245+60T>C
ENST00000638771.1:c.181+60T>C	ENSP00000492435.1:n.181+60T>C
ENST00000639045.1:c.*167+60T>C	ENSP00000491997.1:n.*167+60T>C
ENST00000639777.1:n.785+60T>C
ENST00000639935.1:n.218+60T>C
ENST00000640030.1:c.121+60T>C	ENSP00000491411.1:n.121+60T>C
ENST00000640067.1:c.181+60T>C	ENSP00000491844.1:n.181+60T>C
ENST00000640423.1:n.190+60T>C
ENST00000640949.1:c.181+60T>C	ENSP00000492500.1:n.181+60T>C
ENST00000378585.5:c.181+60T>C	ENSP00000367848.4:n.181+60T>C
NM_000815.4:c.181+60T>C	NP_000806.2:n.181+60T>C
XM_011541194.1:c.220+60T>C	XP_011539496.1:n.220+60T>C
XM_011541194.3:c.220+60T>C	XP_011539496.1:n.220+60T>C
XM_017000936.1:c.886+60T>C	XP_016856425.1:n.886+60T>C
NM_000815.5:c.181+60T>C MANE Select	NP_000806.2:n.181+60T>C