Canonical Allele Identifier: CA494910506
Gene: SRCAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30748600T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737279T>A , CM000678.2:g.30737279T>A GRCh38
NC_000016.9:g.30748600T>A , CM000678.1:g.30748600T>A GRCh37
NC_000016.8:g.30656101T>A NCBI36
NG_032135.1:g.43139T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7239T>A ENSP00000405186.3:p.Pro2413=
ENST00000704023.1:c.1519T>A
ENST00000706321.1:c.7239T>A ENSP00000516346.1:p.Pro2413=
ENST00000262518.9:c.7239T>A MANE Select ENSP00000262518.4:p.Pro2413=
ENST00000262518.8:c.7239T>A ENSP00000262518.4:p.Pro2413=
ENST00000380361.7:c.6708T>A ENSP00000369719.3:p.Pro2236=
ENST00000395059.6:c.6462T>A ENSP00000378499.3:p.Pro2154=
NM_006662.2:c.7239T>A NP_006653.2:p.Pro2413=
NM_006662.3:c.7239T>A MANE Select NP_006653.2:p.Pro2413=