Canonical Allele Identifier: CA8012834

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30739162G>A , CM000678.2:g.30739162G>A	GRCh38
NC_000016.9:g.30750483G>A , CM000678.1:g.30750483G>A	GRCh37
NC_000016.8:g.30657984G>A	NCBI36
NG_032135.1:g.45022G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.9122G>A MANE Select	NP_006653.2:p.Arg3041Gln
ENST00000262518.9:c.9122G>A MANE Select	ENSP00000262518.4:p.Arg3041Gln
NM_006662.2:c.9122G>A	NP_006653.2:p.Arg3041Gln
ENST00000262518.8:c.9122G>A	ENSP00000262518.4:p.Arg3041Gln
ENST00000380361.7:c.8591G>A	ENSP00000369719.3:p.Arg2864Gln
ENST00000395059.6:c.8345G>A	ENSP00000378499.3:p.Arg2782Gln
ENST00000411466.7:c.9122G>A	ENSP00000405186.3:p.Arg3041Gln
ENST00000704023.1:c.1758+1207G>A
ENST00000706321.1:c.9122G>A	ENSP00000516346.1:p.Arg3041Gln