Canonical Allele Identifier: CA8012688

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30738445C>T , CM000678.2:g.30738445C>T	GRCh38
NC_000016.9:g.30749766C>T , CM000678.1:g.30749766C>T	GRCh37
NC_000016.8:g.30657267C>T	NCBI36
NG_032135.1:g.44305C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.8405C>T MANE Select	NP_006653.2:p.Ser2802Phe
ENST00000262518.9:c.8405C>T MANE Select	ENSP00000262518.4:p.Ser2802Phe
NM_006662.2:c.8405C>T	NP_006653.2:p.Ser2802Phe
ENST00000262518.8:c.8405C>T	ENSP00000262518.4:p.Ser2802Phe
ENST00000380361.7:c.7874C>T	ENSP00000369719.3:p.Ser2625Phe
ENST00000395059.6:c.7628C>T	ENSP00000378499.3:p.Ser2543Phe
ENST00000411466.7:c.8405C>T	ENSP00000405186.3:p.Ser2802Phe
ENST00000704023.1:c.1758+490C>T
ENST00000706321.1:c.8405C>T	ENSP00000516346.1:p.Ser2802Phe