Canonical Allele Identifier: CA342761
Gene: SRCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 30908
dbSNP Id: rs199469464

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737370C>T , CM000678.2:g.30737370C>T GRCh38
NC_000016.9:g.30748691C>T , CM000678.1:g.30748691C>T GRCh37
NC_000016.8:g.30656192C>T NCBI36
NG_032135.1:g.43230C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7330C>T ENSP00000405186.3:p.Arg2444Ter
ENST00000704023.1:c.1593+17C>T
ENST00000706321.1:c.7330C>T ENSP00000516346.1:p.Arg2444Ter
ENST00000262518.9:c.7330C>T MANE Select ENSP00000262518.4:p.Arg2444Ter
ENST00000262518.8:c.7330C>T ENSP00000262518.4:p.Arg2444Ter
ENST00000380361.7:c.6799C>T ENSP00000369719.3:p.Arg2267Ter
ENST00000395059.6:c.6553C>T ENSP00000378499.3:p.Arg2185Ter
NM_006662.2:c.7330C>T NP_006653.2:p.Arg2444Ter
NM_006662.3:c.7330C>T MANE Select NP_006653.2:p.Arg2444Ter