Canonical Allele Identifier: CA365987381

Gene: SASH1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.148531626G>A , CM000668.2:g.148531626G>A	GRCh38
NC_000006.11:g.148852762G>A , CM000668.1:g.148852762G>A	GRCh37
NC_000006.10:g.148894455G>A	NCBI36
NG_051927.1:g.264351G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015278.5:c.1529G>A MANE Select	NP_056093.3:p.Ser510Asn
ENST00000367467.8:c.1529G>A MANE Select	ENSP00000356437.3:p.Ser510Asn
NM_001346505.1:c.1394G>A	NP_001333434.1:p.Ser465Asn
NM_001346505.2:c.1394G>A	NP_001333434.1:p.Ser465Asn
NM_001346506.1:c.1157G>A	NP_001333435.1:p.Ser386Asn
NM_001346506.2:c.1157G>A	NP_001333435.1:p.Ser386Asn
NM_001346507.1:c.812G>A	NP_001333436.1:p.Ser271Asn
NM_001346507.2:c.812G>A	NP_001333436.1:p.Ser271Asn
NM_001346508.1:c.1301G>A	NP_001333437.1:p.Ser434Asn
NM_001346508.2:c.1301G>A	NP_001333437.1:p.Ser434Asn
NM_001346509.1:c.1178G>A	NP_001333438.1:p.Ser393Asn
NM_001346509.2:c.1178G>A	NP_001333438.1:p.Ser393Asn
NM_015278.3:c.1529G>A	NP_056093.3:p.Ser510Asn
NM_015278.4:c.1529G>A	NP_056093.3:p.Ser510Asn
ENST00000367467.7:c.1529G>A	ENSP00000356437.3:p.Ser510Asn
ENST00000622663.1:c.-206-1171G>A	ENSP00000479998.1:n.-206-1171G>A
ENST00000635969.1:n.433G>A
XM_005266874.3:c.1637G>A	XP_005266931.1:p.Ser546Asn
XM_005266875.1:c.812G>A	XP_005266932.1:p.Ser271Asn
XM_006715406.2:c.1493G>A	XP_006715469.1:p.Ser498Asn
XM_011535637.1:c.1526G>A	XP_011533939.1:p.Ser509Asn
XM_011535638.1:c.1502G>A	XP_011533940.1:p.Ser501Asn
XM_011535639.1:c.1418G>A	XP_011533941.1:p.Ser473Asn
XM_011535640.1:c.1394G>A	XP_011533942.1:p.Ser465Asn
XM_017010598.2:c.2018G>A	XP_016866087.1:p.Ser673Asn
XM_017010599.1:c.1907G>A	XP_016866088.1:p.Ser636Asn
XM_017010600.1:c.1883G>A	XP_016866089.1:p.Ser628Asn
XM_017010605.1:c.1646G>A	XP_016866094.1:p.Ser549Asn
XM_024446384.1:c.1418G>A	XP_024302152.1:p.Ser473Asn
XM_024446385.1:c.1292G>A	XP_024302153.1:p.Ser431Asn