Canonical Allele Identifier: CA330004554

Gene: STARD8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68716414C>A , CM000685.2:g.68716414C>A	GRCh38
NC_000023.10:g.67936256C>A , CM000685.1:g.67936256C>A	GRCh37
NC_000023.9:g.67852981C>A	NCBI36
NG_016856.1:g.73746C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142503.3:c.280C>A MANE Select	NP_001135975.1:p.His94Asn
ENST00000374599.8:c.280C>A MANE Select	ENSP00000363727.3:p.His94Asn
NM_001142503.2:c.280C>A	NP_001135975.1:p.His94Asn
NM_001142504.2:c.40C>A	NP_001135976.1:p.His14Asn
NM_001142504.3:c.40C>A	NP_001135976.1:p.His14Asn
NM_014725.4:c.40C>A	NP_055540.2:p.His14Asn
NM_014725.5:c.40C>A	NP_055540.2:p.His14Asn
ENST00000252336.10:c.40C>A	ENSP00000252336.6:p.His14Asn
ENST00000374597.3:c.40C>A	ENSP00000363725.3:p.His14Asn
ENST00000374599.7:c.280C>A	ENSP00000363727.3:p.His94Asn
ENST00000523864.5:c.*39C>A	ENSP00000428031.1:n.*39C>A
XM_005262314.3:c.280C>A	XP_005262371.1:p.His94Asn
XM_005262314.4:c.280C>A	XP_005262371.1:p.His94Asn
XM_005262315.2:c.40C>A	XP_005262372.1:p.His14Asn
XM_005262315.3:c.40C>A	XP_005262372.1:p.His14Asn
XM_011531069.1:c.40C>A	XP_011529371.1:p.His14Asn
XM_011531069.3:c.40C>A	XP_011529371.1:p.His14Asn
XM_011531070.1:c.40C>A	XP_011529372.1:p.His14Asn
XM_011531070.2:c.40C>A	XP_011529372.1:p.His14Asn