Canonical Allele Identifier: CA337955665

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956463T>C (hg19) ; chr1:g.2025024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025024T>C , CM000663.2:g.2025024T>C	GRCh38
NC_000001.10:g.1956463T>C , CM000663.1:g.1956463T>C	GRCh37
NC_000001.9:g.1946323T>C	NCBI36
NG_008168.1:g.10696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.151T>C MANE Select	ENSP00000367848.4:p.Tyr51His
ENST00000638411.1:c.151T>C	ENSP00000491632.1:p.Tyr51His
ENST00000638604.1:n.215T>C
ENST00000638771.1:c.151T>C	ENSP00000492435.1:p.Tyr51His
ENST00000639045.1:c.*137T>C	ENSP00000491997.1:n.*137T>C
ENST00000639777.1:n.755T>C
ENST00000639935.1:n.188T>C
ENST00000640030.1:c.91T>C	ENSP00000491411.1:p.Tyr31His
ENST00000640067.1:c.151T>C	ENSP00000491844.1:p.Tyr51His
ENST00000640423.1:n.160T>C
ENST00000640949.1:c.151T>C	ENSP00000492500.1:p.Tyr51His
ENST00000378585.5:c.151T>C	ENSP00000367848.4:p.Tyr51His
NM_000815.4:c.151T>C	NP_000806.2:p.Tyr51His
XM_011541194.1:c.190T>C	XP_011539496.1:p.Tyr64His
XM_011541194.3:c.190T>C	XP_011539496.1:p.Tyr64His
XM_017000936.1:c.856T>C	XP_016856425.1:p.Tyr286His
NM_000815.5:c.151T>C MANE Select	NP_000806.2:p.Tyr51His