Canonical Allele Identifier: CA8012975
Community Standard Title: NM_006662.3(SRCAP):c.9664A>G (p.Ser3222Gly)
Gene: SRCAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30739704A>G , CM000678.2:g.30739704A>G GRCh38
NC_000016.9:g.30751025A>G , CM000678.1:g.30751025A>G GRCh37
NC_000016.8:g.30658526A>G NCBI36
NG_032135.1:g.45564A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006662.3:c.9664A>G MANE Select NP_006653.2:p.Ser3222Gly
ENST00000262518.9:c.9664A>G MANE Select ENSP00000262518.4:p.Ser3222Gly
NM_006662.2:c.9664A>G NP_006653.2:p.Ser3222Gly
ENST00000262518.8:c.9664A>G ENSP00000262518.4:p.Ser3222Gly
ENST00000380361.7:c.9133A>G ENSP00000369719.3:p.Ser3045Gly
ENST00000395059.6:c.8887A>G ENSP00000378499.3:p.Ser2963Gly
ENST00000411466.7:c.9664A>G ENSP00000405186.3:p.Ser3222Gly
ENST00000704023.1:c.1759-736A>G
ENST00000706321.1:c.9664A>G ENSP00000516346.1:p.Ser3222Gly