Canonical Allele Identifier: CA494910677
Gene: SRCAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30748702A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737381A>T , CM000678.2:g.30737381A>T GRCh38
NC_000016.9:g.30748702A>T , CM000678.1:g.30748702A>T GRCh37
NC_000016.8:g.30656203A>T NCBI36
NG_032135.1:g.43241A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7341A>T ENSP00000405186.3:p.Pro2447=
ENST00000704023.1:c.1593+28A>T
ENST00000706321.1:c.7341A>T ENSP00000516346.1:p.Pro2447=
ENST00000262518.9:c.7341A>T MANE Select ENSP00000262518.4:p.Pro2447=
ENST00000262518.8:c.7341A>T ENSP00000262518.4:p.Pro2447=
ENST00000380361.7:c.6810A>T ENSP00000369719.3:p.Pro2270=
ENST00000395059.6:c.6564A>T ENSP00000378499.3:p.Pro2188=
NM_006662.2:c.7341A>T NP_006653.2:p.Pro2447=
NM_006662.3:c.7341A>T MANE Select NP_006653.2:p.Pro2447=