Canonical Allele Identifier: CA10437501

Gene: STARD8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68717464C>T , CM000685.2:g.68717464C>T	GRCh38
NC_000023.10:g.67937306C>T , CM000685.1:g.67937306C>T	GRCh37
NC_000023.9:g.67854031C>T	NCBI36
NG_016856.1:g.74796C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142503.3:c.550C>T MANE Select	NP_001135975.1:p.Arg184Trp
ENST00000374599.8:c.550C>T MANE Select	ENSP00000363727.3:p.Arg184Trp
NM_001142503.2:c.550C>T	NP_001135975.1:p.Arg184Trp
NM_001142504.2:c.310C>T	NP_001135976.1:p.Arg104Trp
NM_001142504.3:c.310C>T	NP_001135976.1:p.Arg104Trp
NM_014725.4:c.310C>T	NP_055540.2:p.Arg104Trp
NM_014725.5:c.310C>T	NP_055540.2:p.Arg104Trp
ENST00000252336.10:c.310C>T	ENSP00000252336.6:p.Arg104Trp
ENST00000374597.3:c.310C>T	ENSP00000363725.3:p.Arg104Trp
ENST00000374599.7:c.550C>T	ENSP00000363727.3:p.Arg184Trp
ENST00000523864.5:c.*309C>T	ENSP00000428031.1:n.*309C>T
XM_005262314.3:c.562C>T	XP_005262371.1:p.Arg188Trp
XM_005262314.4:c.562C>T	XP_005262371.1:p.Arg188Trp
XM_005262315.2:c.322C>T	XP_005262372.1:p.Arg108Trp
XM_005262315.3:c.322C>T	XP_005262372.1:p.Arg108Trp
XM_011531069.1:c.310C>T	XP_011529371.1:p.Arg104Trp
XM_011531069.3:c.310C>T	XP_011529371.1:p.Arg104Trp
XM_011531070.1:c.322C>T	XP_011529372.1:p.Arg108Trp
XM_011531070.2:c.322C>T	XP_011529372.1:p.Arg108Trp