Canonical Allele Identifier: CA494910406
Gene: SRCAP HGNC NCBI

Linked Data

dbSNP Id: rs776770794
gnomAD v4: 16-30737178-C-A
MyVariant Identifiers: chr16:g.30748499C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737178C>A , CM000678.2:g.30737178C>A GRCh38
NC_000016.9:g.30748499C>A , CM000678.1:g.30748499C>A GRCh37
NC_000016.8:g.30656000C>A NCBI36
NG_032135.1:g.43038C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7138C>A ENSP00000405186.3:p.Arg2380=
ENST00000704023.1:c.1418C>A
ENST00000706321.1:c.7138C>A ENSP00000516346.1:p.Arg2380=
ENST00000262518.9:c.7138C>A MANE Select ENSP00000262518.4:p.Arg2380=
ENST00000262518.8:c.7138C>A ENSP00000262518.4:p.Arg2380=
ENST00000380361.7:c.6607C>A ENSP00000369719.3:p.Arg2203=
ENST00000395059.6:c.6361C>A ENSP00000378499.3:p.Arg2121=
NM_006662.2:c.7138C>A NP_006653.2:p.Arg2380=
NM_006662.3:c.7138C>A MANE Select NP_006653.2:p.Arg2380=
Search 100 bp 5'
Search 100 bp 3'