Canonical Allele Identifier: CA494910408
Gene: SRCAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30748501G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737180G>C , CM000678.2:g.30737180G>C GRCh38
NC_000016.9:g.30748501G>C , CM000678.1:g.30748501G>C GRCh37
NC_000016.8:g.30656002G>C NCBI36
NG_032135.1:g.43040G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7140G>C ENSP00000405186.3:p.Arg2380=
ENST00000704023.1:c.1420G>C
ENST00000706321.1:c.7140G>C ENSP00000516346.1:p.Arg2380=
ENST00000262518.9:c.7140G>C MANE Select ENSP00000262518.4:p.Arg2380=
ENST00000262518.8:c.7140G>C ENSP00000262518.4:p.Arg2380=
ENST00000380361.7:c.6609G>C ENSP00000369719.3:p.Arg2203=
ENST00000395059.6:c.6363G>C ENSP00000378499.3:p.Arg2121=
NM_006662.2:c.7140G>C NP_006653.2:p.Arg2380=
NM_006662.3:c.7140G>C MANE Select NP_006653.2:p.Arg2380=