Canonical Allele Identifier: CA337955109

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024943-G-T
• MyVariant Identifiers: chr1:g.1956382G>T (hg19) ; chr1:g.2024943G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.70G>T MANE Select	ENSP00000367848.4:p.Ala24Ser
ENST00000638411.1:c.70G>T	ENSP00000491632.1:p.Ala24Ser
ENST00000638604.1:n.134G>T
ENST00000638771.1:c.70G>T	ENSP00000492435.1:p.Ala24Ser
ENST00000639045.1:c.*56G>T	ENSP00000491997.1:n.*56G>T
ENST00000639777.1:n.674G>T
ENST00000639935.1:n.107G>T
ENST00000640030.1:c.10G>T	ENSP00000491411.1:p.Ala4Ser
ENST00000640067.1:c.70G>T	ENSP00000491844.1:p.Ala24Ser
ENST00000640423.1:n.79G>T
ENST00000640949.1:c.70G>T	ENSP00000492500.1:p.Ala24Ser
ENST00000378585.5:c.70G>T	ENSP00000367848.4:p.Ala24Ser
NM_000815.4:c.70G>T	NP_000806.2:p.Ala24Ser
XM_011541194.1:c.109G>T	XP_011539496.1:p.Ala37Ser
XM_011541194.3:c.109G>T	XP_011539496.1:p.Ala37Ser
XM_017000936.1:c.775G>T	XP_016856425.1:p.Ala259Ser
NM_000815.5:c.70G>T MANE Select	NP_000806.2:p.Ala24Ser