Canonical Allele Identifier: CA10056579

Gene: TSPEAR

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44522026C>T , CM000683.2:g.44522026C>T	GRCh38
NC_000021.8:g.45941909C>T , CM000683.1:g.45941909C>T	GRCh37
NC_000021.7:g.44766337C>T	NCBI36
NG_033806.1:g.194553G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144991.3:c.1423G>A MANE Select	NP_659428.2:p.Gly475Ser
ENST00000323084.9:c.1423G>A MANE Select	ENSP00000321987.4:p.Gly475Ser
NM_001272037.1:c.1219G>A	NP_001258966.1:p.Gly407Ser
NM_001272037.2:c.1219G>A	NP_001258966.1:p.Gly407Ser
NM_144991.2:c.1423G>A	NP_659428.2:p.Gly475Ser
ENST00000323084.8:c.1423G>A	ENSP00000321987.4:p.Gly475Ser
ENST00000397916.1:c.1219G>A	ENSP00000381012.1:p.Gly407Ser
ENST00000613245.4:c.982G>A	ENSP00000478010.1:p.Gly328Ser
ENST00000614657.4:c.1219G>A	ENSP00000482422.1:p.Gly407Ser
ENST00000642437.1:c.*1368G>A	ENSP00000496535.1:n.*1368G>A