Canonical Allele Identifier: CA365988331

Gene: SASH1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.148532883T>G , CM000668.2:g.148532883T>G	GRCh38
NC_000006.11:g.148854019T>G , CM000668.1:g.148854019T>G	GRCh37
NC_000006.10:g.148895712T>G	NCBI36
NG_051927.1:g.265608T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015278.5:c.1651T>G MANE Select	NP_056093.3:p.Tyr551Asp
ENST00000367467.8:c.1651T>G MANE Select	ENSP00000356437.3:p.Tyr551Asp
NM_001346505.1:c.1516T>G	NP_001333434.1:p.Tyr506Asp
NM_001346505.2:c.1516T>G	NP_001333434.1:p.Tyr506Asp
NM_001346506.1:c.1279T>G	NP_001333435.1:p.Tyr427Asp
NM_001346506.2:c.1279T>G	NP_001333435.1:p.Tyr427Asp
NM_001346507.1:c.934T>G	NP_001333436.1:p.Tyr312Asp
NM_001346507.2:c.934T>G	NP_001333436.1:p.Tyr312Asp
NM_001346508.1:c.1423T>G	NP_001333437.1:p.Tyr475Asp
NM_001346508.2:c.1423T>G	NP_001333437.1:p.Tyr475Asp
NM_001346509.1:c.1300T>G	NP_001333438.1:p.Tyr434Asp
NM_001346509.2:c.1300T>G	NP_001333438.1:p.Tyr434Asp
NM_015278.3:c.1651T>G	NP_056093.3:p.Tyr551Asp
NM_015278.4:c.1651T>G	NP_056093.3:p.Tyr551Asp
ENST00000367467.7:c.1651T>G	ENSP00000356437.3:p.Tyr551Asp
ENST00000622663.1:c.-120T>G	ENSP00000479998.1:n.-120T>G
XM_005266874.3:c.1759T>G	XP_005266931.1:p.Tyr587Asp
XM_005266875.1:c.934T>G	XP_005266932.1:p.Tyr312Asp
XM_006715406.2:c.1615T>G	XP_006715469.1:p.Tyr539Asp
XM_011535637.1:c.1648T>G	XP_011533939.1:p.Tyr550Asp
XM_011535638.1:c.1624T>G	XP_011533940.1:p.Tyr542Asp
XM_011535639.1:c.1540T>G	XP_011533941.1:p.Tyr514Asp
XM_011535640.1:c.1516T>G	XP_011533942.1:p.Tyr506Asp
XM_017010598.2:c.2140T>G	XP_016866087.1:p.Tyr714Asp
XM_017010599.1:c.2029T>G	XP_016866088.1:p.Tyr677Asp
XM_017010600.1:c.2005T>G	XP_016866089.1:p.Tyr669Asp
XM_017010605.1:c.1768T>G	XP_016866094.1:p.Tyr590Asp
XM_024446384.1:c.1540T>G	XP_024302152.1:p.Tyr514Asp
XM_024446385.1:c.1414T>G	XP_024302153.1:p.Tyr472Asp