Canonical Allele Identifier: CA8012661

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30738360G>T , CM000678.2:g.30738360G>T	GRCh38
NC_000016.9:g.30749681G>T , CM000678.1:g.30749681G>T	GRCh37
NC_000016.8:g.30657182G>T	NCBI36
NG_032135.1:g.44220G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.8320G>T MANE Select	NP_006653.2:p.Ala2774Ser
ENST00000262518.9:c.8320G>T MANE Select	ENSP00000262518.4:p.Ala2774Ser
NM_006662.2:c.8320G>T	NP_006653.2:p.Ala2774Ser
ENST00000262518.8:c.8320G>T	ENSP00000262518.4:p.Ala2774Ser
ENST00000380361.7:c.7789G>T	ENSP00000369719.3:p.Ala2597Ser
ENST00000395059.6:c.7543G>T	ENSP00000378499.3:p.Ala2515Ser
ENST00000411466.7:c.8320G>T	ENSP00000405186.3:p.Ala2774Ser
ENST00000704023.1:c.1758+405G>T
ENST00000706321.1:c.8320G>T	ENSP00000516346.1:p.Ala2774Ser