Canonical Allele Identifier: CA245327

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30704071C>T , CM000678.2:g.30704071C>T	GRCh38
NC_000016.9:g.30715392C>T , CM000678.1:g.30715392C>T	GRCh37
NC_000016.8:g.30622893C>T	NCBI36
NG_032135.1:g.9931C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.62C>T MANE Select	NP_006653.2:p.Ser21Leu
ENST00000262518.9:c.62C>T MANE Select	ENSP00000262518.4:p.Ser21Leu
NM_006662.2:c.62C>T	NP_006653.2:p.Ser21Leu
ENST00000262518.8:c.62C>T	ENSP00000262518.4:p.Ser21Leu
ENST00000380361.7:c.5C>T	ENSP00000369719.3:p.Ser2Leu
ENST00000411466.6:c.62C>T	ENSP00000405186.2:p.Ser21Leu
ENST00000411466.7:c.62C>T	ENSP00000405186.3:p.Ser21Leu
ENST00000706321.1:c.62C>T	ENSP00000516346.1:p.Ser21Leu