Canonical Allele Identifier: CA494910405

Gene: SRCAP

Linked Data

• dbSNP Id: rs768555151
• gnomAD v4: 16-30737177-C-T
• MyVariant Identifiers: chr16:g.30748498C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737177C>T , CM000678.2:g.30737177C>T	GRCh38
NC_000016.9:g.30748498C>T , CM000678.1:g.30748498C>T	GRCh37
NC_000016.8:g.30655999C>T	NCBI36
NG_032135.1:g.43037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7137C>T	ENSP00000405186.3:p.His2379=
ENST00000704023.1:c.1417C>T
ENST00000706321.1:c.7137C>T	ENSP00000516346.1:p.His2379=
ENST00000262518.9:c.7137C>T MANE Select	ENSP00000262518.4:p.His2379=
ENST00000262518.8:c.7137C>T	ENSP00000262518.4:p.His2379=
ENST00000380361.7:c.6606C>T	ENSP00000369719.3:p.His2202=
ENST00000395059.6:c.6360C>T	ENSP00000378499.3:p.His2120=
NM_006662.2:c.7137C>T	NP_006653.2:p.His2379=
NM_006662.3:c.7137C>T MANE Select	NP_006653.2:p.His2379=