Canonical Allele Identifier: CA395637861
Gene: SRCAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30738540G>C , CM000678.2:g.30738540G>C GRCh38
NC_000016.9:g.30749861G>C , CM000678.1:g.30749861G>C GRCh37
NC_000016.8:g.30657362G>C NCBI36
NG_032135.1:g.44400G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411466.7:c.8500G>C ENSP00000405186.3:p.Gly2834Arg
ENST00000704023.1:c.1758+585G>C
ENST00000706321.1:c.8500G>C ENSP00000516346.1:p.Gly2834Arg
ENST00000262518.9:c.8500G>C MANE Select ENSP00000262518.4:p.Gly2834Arg
ENST00000262518.8:c.8500G>C ENSP00000262518.4:p.Gly2834Arg
ENST00000380361.7:c.7969G>C ENSP00000369719.3:p.Gly2657Arg
ENST00000395059.6:c.7723G>C ENSP00000378499.3:p.Gly2575Arg
NM_006662.2:c.8500G>C NP_006653.2:p.Gly2834Arg
NM_006662.3:c.8500G>C MANE Select NP_006653.2:p.Gly2834Arg