Canonical Allele Identifier: CA16891687
Gene: GABRD HGNC NCBI

Linked Data

dbSNP Id: rs142619552
gnomAD v4: 1-2030014-C-T
COSMIC: COSM108123
MyVariant Identifiers: chr1:g.1961453C>T (hg19) chr1:g.2030014C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2030014C>T , CM000663.2:g.2030014C>T GRCh38
NC_000001.10:g.1961453C>T , CM000663.1:g.1961453C>T GRCh37
NC_000001.9:g.1951313C>T NCBI36
NG_008168.1:g.15686C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378585.7:c.1091C>T MANE Select ENSP00000367848.4:p.Ser364Phe
ENST00000638411.1:c.1122C>T ENSP00000491632.1:p.Leu374=
ENST00000638604.1:n.1650C>T
ENST00000638771.1:c.1311C>T ENSP00000492435.1:p.Leu437=
ENST00000639070.1:n.1670C>T
ENST00000639777.1:n.1695C>T
ENST00000640030.1:c.875C>T ENSP00000491411.1:p.Ser292Phe
ENST00000640067.1:c.1175C>T ENSP00000491844.1:p.Ser392Phe
ENST00000640317.1:n.1440C>T
ENST00000640423.1:n.1100C>T
ENST00000640688.1:n.592C>T
ENST00000640892.1:n.1758C>T
ENST00000640949.1:c.1022C>T ENSP00000492500.1:p.Ser341Phe
ENST00000378585.5:c.1091C>T ENSP00000367848.4:p.Ser364Phe
NM_000815.4:c.1091C>T NP_000806.2:p.Ser364Phe
XM_011541194.1:c.1130C>T XP_011539496.1:p.Ser377Phe
XM_011541194.3:c.1130C>T XP_011539496.1:p.Ser377Phe
XM_017000936.1:c.1796C>T XP_016856425.1:p.Ser599Phe
NM_000815.5:c.1091C>T MANE Select NP_000806.2:p.Ser364Phe
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