Canonical Allele Identifier: CA8012810

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30739029A>G , CM000678.2:g.30739029A>G	GRCh38
NC_000016.9:g.30750350A>G , CM000678.1:g.30750350A>G	GRCh37
NC_000016.8:g.30657851A>G	NCBI36
NG_032135.1:g.44889A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.8989A>G MANE Select	NP_006653.2:p.Thr2997Ala
ENST00000262518.9:c.8989A>G MANE Select	ENSP00000262518.4:p.Thr2997Ala
NM_006662.2:c.8989A>G	NP_006653.2:p.Thr2997Ala
ENST00000262518.8:c.8989A>G	ENSP00000262518.4:p.Thr2997Ala
ENST00000380361.7:c.8458A>G	ENSP00000369719.3:p.Thr2820Ala
ENST00000395059.6:c.8212A>G	ENSP00000378499.3:p.Thr2738Ala
ENST00000411466.7:c.8989A>G	ENSP00000405186.3:p.Thr2997Ala
ENST00000704023.1:c.1758+1074A>G
ENST00000706321.1:c.8989A>G	ENSP00000516346.1:p.Thr2997Ala