Canonical Allele Identifier: CA400249420

Gene: SPATA20

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50552038G>T , CM000679.2:g.50552038G>T	GRCh38
NC_000017.10:g.48629399G>T , CM000679.1:g.48629399G>T	GRCh37
NC_000017.9:g.45984398G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000006658.11:c.1815G>T MANE Select	ENSP00000006658.6:p.Glu605Asp
ENST00000006658.10:c.1815G>T	ENSP00000006658.6:p.Glu605Asp
ENST00000356488.8:c.1767G>T	ENSP00000348878.4:p.Glu589Asp
ENST00000503063.5:n.2448G>T
ENST00000503127.5:c.*1738G>T	ENSP00000426228.1:n.*1738G>T
ENST00000504334.5:c.*1830G>T	ENSP00000424215.1:n.*1830G>T
ENST00000511937.5:c.*233G>T	ENSP00000489476.1:n.*233G>T
ENST00000619622.4:c.1635G>T	ENSP00000483295.1:p.Glu545Asp
ENST00000634597.1:c.1767G>T	ENSP00000489591.1:p.Glu589Asp
NM_001258372.1:c.1767G>T	NP_001245301.1:p.Glu589Asp
NM_001258373.1:c.1635G>T	NP_001245302.1:p.Glu545Asp
NM_022827.3:c.1815G>T	NP_073738.2:p.Glu605Asp
NM_022827.4:c.1815G>T MANE Select	NP_073738.2:p.Glu605Asp
NM_001258372.2:c.1767G>T	NP_001245301.1:p.Glu589Asp
NM_001258373.2:c.1635G>T	NP_001245302.1:p.Glu545Asp