Canonical Allele Identifier: CA337955100

Gene: GABRD

Linked Data

• MyVariant Identifiers: chr1:g.1956381A>C (hg19) ; chr1:g.2024942A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024942A>C , CM000663.2:g.2024942A>C	GRCh38
NC_000001.10:g.1956381A>C , CM000663.1:g.1956381A>C	GRCh37
NC_000001.9:g.1946241A>C	NCBI36
NG_008168.1:g.10614A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69A>C MANE Select	ENSP00000367848.4:p.Arg23Ser
ENST00000638411.1:c.69A>C	ENSP00000491632.1:p.Arg23Ser
ENST00000638604.1:n.133A>C
ENST00000638771.1:c.69A>C	ENSP00000492435.1:p.Arg23Ser
ENST00000639045.1:c.*55A>C	ENSP00000491997.1:n.*55A>C
ENST00000639777.1:n.673A>C
ENST00000639935.1:n.106A>C
ENST00000640030.1:c.9A>C	ENSP00000491411.1:p.Arg3Ser
ENST00000640067.1:c.69A>C	ENSP00000491844.1:p.Arg23Ser
ENST00000640423.1:n.78A>C
ENST00000640949.1:c.69A>C	ENSP00000492500.1:p.Arg23Ser
ENST00000378585.5:c.69A>C	ENSP00000367848.4:p.Arg23Ser
NM_000815.4:c.69A>C	NP_000806.2:p.Arg23Ser
XM_011541194.1:c.108A>C	XP_011539496.1:p.Arg36Ser
XM_011541194.3:c.108A>C	XP_011539496.1:p.Arg36Ser
XM_017000936.1:c.774A>C	XP_016856425.1:p.Arg258Ser
NM_000815.5:c.69A>C MANE Select	NP_000806.2:p.Arg23Ser