Canonical Allele Identifier: CA415448462

Gene: GABRD

Linked Data

• dbSNP Id: rs1219829867
• gnomAD v3: 1-2025044-T-C
• gnomAD v4: 1-2025044-T-C
• MyVariant Identifiers: chr1:g.1956483T>C (hg19) ; chr1:g.2025044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025044T>C , CM000663.2:g.2025044T>C	GRCh38
NC_000001.10:g.1956483T>C , CM000663.1:g.1956483T>C	GRCh37
NC_000001.9:g.1946343T>C	NCBI36
NG_008168.1:g.10716T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.171T>C MANE Select	ENSP00000367848.4:p.Pro57=
ENST00000638411.1:c.171T>C	ENSP00000491632.1:p.Pro57=
ENST00000638604.1:n.235T>C
ENST00000638771.1:c.171T>C	ENSP00000492435.1:p.Pro57=
ENST00000639045.1:c.*157T>C	ENSP00000491997.1:n.*157T>C
ENST00000639777.1:n.775T>C
ENST00000639935.1:n.208T>C
ENST00000640030.1:c.111T>C	ENSP00000491411.1:p.Pro37=
ENST00000640067.1:c.171T>C	ENSP00000491844.1:p.Pro57=
ENST00000640423.1:n.180T>C
ENST00000640949.1:c.171T>C	ENSP00000492500.1:p.Pro57=
ENST00000378585.5:c.171T>C	ENSP00000367848.4:p.Pro57=
NM_000815.4:c.171T>C	NP_000806.2:p.Pro57=
XM_011541194.1:c.210T>C	XP_011539496.1:p.Pro70=
XM_011541194.3:c.210T>C	XP_011539496.1:p.Pro70=
XM_017000936.1:c.876T>C	XP_016856425.1:p.Pro292=
NM_000815.5:c.171T>C MANE Select	NP_000806.2:p.Pro57=