Canonical Allele Identifier: CA170801

Gene: SASH1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.148533885G>A , CM000668.2:g.148533885G>A	GRCh38
NC_000006.11:g.148855021G>A , CM000668.1:g.148855021G>A	GRCh37
NC_000006.10:g.148896714G>A	NCBI36
NG_051927.1:g.266610G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015278.5:c.1849G>A MANE Select	NP_056093.3:p.Glu617Lys
ENST00000367467.8:c.1849G>A MANE Select	ENSP00000356437.3:p.Glu617Lys
NM_001346505.1:c.1714G>A	NP_001333434.1:p.Glu572Lys
NM_001346505.2:c.1714G>A	NP_001333434.1:p.Glu572Lys
NM_001346506.1:c.1477G>A	NP_001333435.1:p.Glu493Lys
NM_001346506.2:c.1477G>A	NP_001333435.1:p.Glu493Lys
NM_001346507.1:c.1132G>A	NP_001333436.1:p.Glu378Lys
NM_001346507.2:c.1132G>A	NP_001333436.1:p.Glu378Lys
NM_001346508.1:c.1621G>A	NP_001333437.1:p.Glu541Lys
NM_001346508.2:c.1621G>A	NP_001333437.1:p.Glu541Lys
NM_001346509.1:c.1498G>A	NP_001333438.1:p.Glu500Lys
NM_001346509.2:c.1498G>A	NP_001333438.1:p.Glu500Lys
NM_015278.3:c.1849G>A	NP_056093.3:p.Glu617Lys
NM_015278.4:c.1849G>A	NP_056093.3:p.Glu617Lys
ENST00000367467.7:c.1849G>A	ENSP00000356437.3:p.Glu617Lys
ENST00000622663.1:c.79G>A	ENSP00000479998.1:p.Glu27Lys
XM_005266874.3:c.1957G>A	XP_005266931.1:p.Glu653Lys
XM_005266875.1:c.1132G>A	XP_005266932.1:p.Glu378Lys
XM_006715406.2:c.1813G>A	XP_006715469.1:p.Glu605Lys
XM_011535637.1:c.1846G>A	XP_011533939.1:p.Glu616Lys
XM_011535638.1:c.1822G>A	XP_011533940.1:p.Glu608Lys
XM_011535639.1:c.1738G>A	XP_011533941.1:p.Glu580Lys
XM_011535640.1:c.1714G>A	XP_011533942.1:p.Glu572Lys
XM_017010598.2:c.2338G>A	XP_016866087.1:p.Glu780Lys
XM_017010599.1:c.2227G>A	XP_016866088.1:p.Glu743Lys
XM_017010600.1:c.2203G>A	XP_016866089.1:p.Glu735Lys
XM_017010605.1:c.1966G>A	XP_016866094.1:p.Glu656Lys
XM_024446384.1:c.1738G>A	XP_024302152.1:p.Glu580Lys
XM_024446385.1:c.1612G>A	XP_024302153.1:p.Glu538Lys