Canonical Allele Identifier: CA395632593
Gene: SRCAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737377C>G , CM000678.2:g.30737377C>G GRCh38
NC_000016.9:g.30748698C>G , CM000678.1:g.30748698C>G GRCh37
NC_000016.8:g.30656199C>G NCBI36
NG_032135.1:g.43237C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7337C>G ENSP00000405186.3:p.Thr2446Ser
ENST00000704023.1:c.1593+24C>G
ENST00000706321.1:c.7337C>G ENSP00000516346.1:p.Thr2446Ser
ENST00000262518.9:c.7337C>G MANE Select ENSP00000262518.4:p.Thr2446Ser
ENST00000262518.8:c.7337C>G ENSP00000262518.4:p.Thr2446Ser
ENST00000380361.7:c.6806C>G ENSP00000369719.3:p.Thr2269Ser
ENST00000395059.6:c.6560C>G ENSP00000378499.3:p.Thr2187Ser
NM_006662.2:c.7337C>G NP_006653.2:p.Thr2446Ser
NM_006662.3:c.7337C>G MANE Select NP_006653.2:p.Thr2446Ser