Canonical Allele Identifier: CA10437525

Gene: STARD8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68717653A>G , CM000685.2:g.68717653A>G	GRCh38
NC_000023.10:g.67937495A>G , CM000685.1:g.67937495A>G	GRCh37
NC_000023.9:g.67854220A>G	NCBI36
NG_016856.1:g.74985A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001142503.3:c.739A>G MANE Select	NP_001135975.1:p.Ser247Gly
ENST00000374599.8:c.739A>G MANE Select	ENSP00000363727.3:p.Ser247Gly
NM_001142503.2:c.739A>G	NP_001135975.1:p.Ser247Gly
NM_001142504.2:c.499A>G	NP_001135976.1:p.Ser167Gly
NM_001142504.3:c.499A>G	NP_001135976.1:p.Ser167Gly
NM_014725.4:c.499A>G	NP_055540.2:p.Ser167Gly
NM_014725.5:c.499A>G	NP_055540.2:p.Ser167Gly
ENST00000252336.10:c.499A>G	ENSP00000252336.6:p.Ser167Gly
ENST00000374597.3:c.499A>G	ENSP00000363725.3:p.Ser167Gly
ENST00000374599.7:c.739A>G	ENSP00000363727.3:p.Ser247Gly
ENST00000523864.5:c.*498A>G	ENSP00000428031.1:n.*498A>G
XM_005262314.3:c.751A>G	XP_005262371.1:p.Ser251Gly
XM_005262314.4:c.751A>G	XP_005262371.1:p.Ser251Gly
XM_005262315.2:c.511A>G	XP_005262372.1:p.Ser171Gly
XM_005262315.3:c.511A>G	XP_005262372.1:p.Ser171Gly
XM_011531069.1:c.499A>G	XP_011529371.1:p.Ser167Gly
XM_011531069.3:c.499A>G	XP_011529371.1:p.Ser167Gly
XM_011531070.1:c.511A>G	XP_011529372.1:p.Ser171Gly
XM_011531070.2:c.511A>G	XP_011529372.1:p.Ser171Gly