Canonical Allele Identifier: CA2693322381

Gene: SAT1

Linked Data

• gnomAD v4: X-23783286-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783286C>T , CM000685.2:g.23783286C>T	GRCh38
NC_000023.10:g.23801403C>T , CM000685.1:g.23801403C>T	GRCh37
NC_000023.9:g.23711324C>T	NCBI36
NG_012929.1:g.5129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-66C>T MANE Select	ENSP00000368572.4:n.-66C>T
ENST00000683890.1:c.9C>T	ENSP00000506989.1:p.Asn3=
ENST00000379251.7:c.-66C>T	ENSP00000368553.3:n.-66C>T
ENST00000379253.7:c.-66C>T	ENSP00000368555.3:n.-66C>T
ENST00000379254.5:c.-66C>T	ENSP00000368556.1:n.-66C>T
ENST00000379270.4:c.-66C>T	ENSP00000368572.4:n.-66C>T
ENST00000489394.5:n.90C>T
NM_002970.3:c.-66C>T	NP_002961.1:n.-66C>T
NR_027783.2:n.129C>T
XM_024452421.1:c.-1405C>T	XP_024308189.1:n.-1405C>T
NM_002970.4:c.-66C>T MANE Select	NP_002961.1:n.-66C>T
NR_027783.3:n.114C>T