Canonical Allele Identifier: CA2579573351

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783321T>C , CM000685.2:g.23783321T>C	GRCh38
NC_000023.10:g.23801438T>C , CM000685.1:g.23801438T>C	GRCh37
NC_000023.9:g.23711359T>C	NCBI36
NG_012929.1:g.5164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-31T>C MANE Select	ENSP00000368572.4:n.-31T>C
ENST00000683890.1:c.44T>C	ENSP00000506989.1:p.Val15Ala
ENST00000379251.7:c.-31T>C	ENSP00000368553.3:n.-31T>C
ENST00000379253.7:c.-31T>C	ENSP00000368555.3:n.-31T>C
ENST00000379254.5:c.-31T>C	ENSP00000368556.1:n.-31T>C
ENST00000379270.4:c.-31T>C	ENSP00000368572.4:n.-31T>C
ENST00000489394.5:n.125T>C
NM_002970.3:c.-31T>C	NP_002961.1:n.-31T>C
NR_027783.2:n.164T>C
XM_024452421.1:c.-1370T>C	XP_024308189.1:n.-1370T>C
NM_002970.4:c.-31T>C MANE Select	NP_002961.1:n.-31T>C
NR_027783.3:n.149T>C