Canonical Allele Identifier: CA395632619
Gene: SRCAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737392C>A , CM000678.2:g.30737392C>A GRCh38
NC_000016.9:g.30748713C>A , CM000678.1:g.30748713C>A GRCh37
NC_000016.8:g.30656214C>A NCBI36
NG_032135.1:g.43252C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411466.7:c.7352C>A ENSP00000405186.3:p.Pro2451Gln
ENST00000704023.1:c.1593+39C>A
ENST00000706321.1:c.7352C>A ENSP00000516346.1:p.Pro2451Gln
ENST00000262518.9:c.7352C>A MANE Select ENSP00000262518.4:p.Pro2451Gln
ENST00000262518.8:c.7352C>A ENSP00000262518.4:p.Pro2451Gln
ENST00000380361.7:c.6821C>A ENSP00000369719.3:p.Pro2274Gln
ENST00000395059.6:c.6575C>A ENSP00000378499.3:p.Pro2192Gln
NM_006662.2:c.7352C>A NP_006653.2:p.Pro2451Gln
NM_006662.3:c.7352C>A MANE Select NP_006653.2:p.Pro2451Gln