Canonical Allele Identifier: CA395632417
Gene: SRCAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737284T>C , CM000678.2:g.30737284T>C GRCh38
NC_000016.9:g.30748605T>C , CM000678.1:g.30748605T>C GRCh37
NC_000016.8:g.30656106T>C NCBI36
NG_032135.1:g.43144T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411466.7:c.7244T>C ENSP00000405186.3:p.Ile2415Thr
ENST00000704023.1:c.1524T>C
ENST00000706321.1:c.7244T>C ENSP00000516346.1:p.Ile2415Thr
ENST00000262518.9:c.7244T>C MANE Select ENSP00000262518.4:p.Ile2415Thr
ENST00000262518.8:c.7244T>C ENSP00000262518.4:p.Ile2415Thr
ENST00000380361.7:c.6713T>C ENSP00000369719.3:p.Ile2238Thr
ENST00000395059.6:c.6467T>C ENSP00000378499.3:p.Ile2156Thr
NM_006662.2:c.7244T>C NP_006653.2:p.Ile2415Thr
NM_006662.3:c.7244T>C MANE Select NP_006653.2:p.Ile2415Thr