Canonical Allele Identifier: CA337955195

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956389A>C (hg19) ; chr1:g.2024950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024950A>C , CM000663.2:g.2024950A>C	GRCh38
NC_000001.10:g.1956389A>C , CM000663.1:g.1956389A>C	GRCh37
NC_000001.9:g.1946249A>C	NCBI36
NG_008168.1:g.10622A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.77A>C MANE Select	ENSP00000367848.4:p.Asn26Thr
ENST00000638411.1:c.77A>C	ENSP00000491632.1:p.Asn26Thr
ENST00000638604.1:n.141A>C
ENST00000638771.1:c.77A>C	ENSP00000492435.1:p.Asn26Thr
ENST00000639045.1:c.*63A>C	ENSP00000491997.1:n.*63A>C
ENST00000639777.1:n.681A>C
ENST00000639935.1:n.114A>C
ENST00000640030.1:c.17A>C	ENSP00000491411.1:p.Asn6Thr
ENST00000640067.1:c.77A>C	ENSP00000491844.1:p.Asn26Thr
ENST00000640423.1:n.86A>C
ENST00000640949.1:c.77A>C	ENSP00000492500.1:p.Asn26Thr
ENST00000378585.5:c.77A>C	ENSP00000367848.4:p.Asn26Thr
NM_000815.4:c.77A>C	NP_000806.2:p.Asn26Thr
XM_011541194.1:c.116A>C	XP_011539496.1:p.Asn39Thr
XM_011541194.3:c.116A>C	XP_011539496.1:p.Asn39Thr
XM_017000936.1:c.782A>C	XP_016856425.1:p.Asn261Thr
NM_000815.5:c.77A>C MANE Select	NP_000806.2:p.Asn26Thr