Canonical Allele Identifier: CA494910495
Gene: SRCAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30748594C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737273C>T , CM000678.2:g.30737273C>T GRCh38
NC_000016.9:g.30748594C>T , CM000678.1:g.30748594C>T GRCh37
NC_000016.8:g.30656095C>T NCBI36
NG_032135.1:g.43133C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7233C>T ENSP00000405186.3:p.His2411=
ENST00000704023.1:c.1513C>T
ENST00000706321.1:c.7233C>T ENSP00000516346.1:p.His2411=
ENST00000262518.9:c.7233C>T MANE Select ENSP00000262518.4:p.His2411=
ENST00000262518.8:c.7233C>T ENSP00000262518.4:p.His2411=
ENST00000380361.7:c.6702C>T ENSP00000369719.3:p.His2234=
ENST00000395059.6:c.6456C>T ENSP00000378499.3:p.His2152=
NM_006662.2:c.7233C>T NP_006653.2:p.His2411=
NM_006662.3:c.7233C>T MANE Select NP_006653.2:p.His2411=