Canonical Allele Identifier: CA8010888
Community Standard Title: NM_006662.3(SRCAP):c.1135-2A>G
Gene: SRCAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30710752A>G , CM000678.2:g.30710752A>G GRCh38
NC_000016.9:g.30722073A>G , CM000678.1:g.30722073A>G GRCh37
NC_000016.8:g.30629574A>G NCBI36
NG_032135.1:g.16612A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006662.3:c.1135-2A>G MANE Select NP_006653.2:n.1135-2A>G
ENST00000262518.9:c.1135-2A>G MANE Select ENSP00000262518.4:n.1135-2A>G
NM_006662.2:c.1135-2A>G NP_006653.2:n.1135-2A>G
ENST00000262518.8:c.1135-2A>G ENSP00000262518.4:n.1135-2A>G
ENST00000380361.7:c.1078-2A>G ENSP00000369719.3:n.1078-2A>G
ENST00000395059.6:c.544-2A>G ENSP00000378499.3:n.544-2A>G
ENST00000411466.7:c.1135-2A>G ENSP00000405186.3:n.1135-2A>G
ENST00000483083.3:c.234-2A>G
ENST00000706321.1:c.1135-2A>G ENSP00000516346.1:n.1135-2A>G