Canonical Allele Identifier: CA8012938

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30739537A>T , CM000678.2:g.30739537A>T	GRCh38
NC_000016.9:g.30750858A>T , CM000678.1:g.30750858A>T	GRCh37
NC_000016.8:g.30658359A>T	NCBI36
NG_032135.1:g.45397A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.9497A>T MANE Select	NP_006653.2:p.Glu3166Val
ENST00000262518.9:c.9497A>T MANE Select	ENSP00000262518.4:p.Glu3166Val
NM_006662.2:c.9497A>T	NP_006653.2:p.Glu3166Val
ENST00000262518.8:c.9497A>T	ENSP00000262518.4:p.Glu3166Val
ENST00000380361.7:c.8966A>T	ENSP00000369719.3:p.Glu2989Val
ENST00000395059.6:c.8720A>T	ENSP00000378499.3:p.Glu2907Val
ENST00000411466.7:c.9497A>T	ENSP00000405186.3:p.Glu3166Val
ENST00000704023.1:c.1759-903A>T
ENST00000706321.1:c.9497A>T	ENSP00000516346.1:p.Glu3166Val