Canonical Allele Identifier: CA2579573342

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783289C>A , CM000685.2:g.23783289C>A	GRCh38
NC_000023.10:g.23801406C>A , CM000685.1:g.23801406C>A	GRCh37
NC_000023.9:g.23711327C>A	NCBI36
NG_012929.1:g.5132C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-63C>A MANE Select	ENSP00000368572.4:n.-63C>A
ENST00000683890.1:c.12C>A	ENSP00000506989.1:p.His4Gln
ENST00000379251.7:c.-63C>A	ENSP00000368553.3:n.-63C>A
ENST00000379253.7:c.-63C>A	ENSP00000368555.3:n.-63C>A
ENST00000379254.5:c.-63C>A	ENSP00000368556.1:n.-63C>A
ENST00000379270.4:c.-63C>A	ENSP00000368572.4:n.-63C>A
ENST00000489394.5:n.93C>A
NM_002970.3:c.-63C>A	NP_002961.1:n.-63C>A
NR_027783.2:n.132C>A
XM_024452421.1:c.-1402C>A	XP_024308189.1:n.-1402C>A
NM_002970.4:c.-63C>A MANE Select	NP_002961.1:n.-63C>A
NR_027783.3:n.117C>A