Canonical Allele Identifier: CA8651745

Gene: SPATA20

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50554392C>T , CM000679.2:g.50554392C>T	GRCh38
NC_000017.10:g.48631753C>T , CM000679.1:g.48631753C>T	GRCh37
NC_000017.9:g.45986752C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000006658.11:c.2099C>T MANE Select	ENSP00000006658.6:p.Pro700Leu
ENST00000006658.10:c.2099C>T	ENSP00000006658.6:p.Pro700Leu
ENST00000356488.8:c.2051C>T	ENSP00000348878.4:p.Pro684Leu
ENST00000503063.5:n.2732C>T
ENST00000503127.5:c.*2022C>T	ENSP00000426228.1:n.*2022C>T
ENST00000504334.5:c.*2114C>T	ENSP00000424215.1:n.*2114C>T
ENST00000511937.5:c.*517C>T	ENSP00000489476.1:n.*517C>T
ENST00000619622.4:c.1919C>T	ENSP00000483295.1:p.Pro640Leu
ENST00000634597.1:c.2051C>T	ENSP00000489591.1:p.Pro684Leu
NM_001258372.1:c.2051C>T	NP_001245301.1:p.Pro684Leu
NM_001258373.1:c.1919C>T	NP_001245302.1:p.Pro640Leu
NM_022827.3:c.2099C>T	NP_073738.2:p.Pro700Leu
NM_022827.4:c.2099C>T MANE Select	NP_073738.2:p.Pro700Leu
NM_001258372.2:c.2051C>T	NP_001245301.1:p.Pro684Leu
NM_001258373.2:c.1919C>T	NP_001245302.1:p.Pro640Leu