Canonical Allele Identifier: CA402785131

Gene: TSHZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.75287534C>G , CM000680.2:g.75287534C>G	GRCh38
NC_000018.9:g.72999489C>G , CM000680.1:g.72999489C>G	GRCh37
NC_000018.8:g.71128477C>G	NCBI36
NG_032047.1:g.81780C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001308210.2:c.2127C>G MANE Select	NP_001295139.1:p.Asp709Glu
ENST00000580243.3:c.2127C>G MANE Select	ENSP00000464391.1:p.Asp709Glu
NM_001308210.1:c.2127C>G	NP_001295139.1:p.Asp709Glu
NM_005786.5:c.1992C>G	NP_005777.3:p.Asp664Glu
NM_005786.6:c.1992C>G	NP_005777.3:p.Asp664Glu
ENST00000322038.5:c.1992C>G	ENSP00000323584.5:p.Asp664Glu
ENST00000580243.1:c.2127C>G	ENSP00000464391.1:p.Asp709Glu
ENST00000584217.1:n.4671C>G
XM_005266641.2:c.1992C>G	XP_005266698.1:p.Asp664Glu
XM_005266641.3:c.1992C>G	XP_005266698.1:p.Asp664Glu