Canonical Allele Identifier: CA10437558
Gene: STARD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68717794C>T , CM000685.2:g.68717794C>T GRCh38
NC_000023.10:g.67937636C>T , CM000685.1:g.67937636C>T GRCh37
NC_000023.9:g.67854361C>T NCBI36
NG_016856.1:g.75126C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374599.8:c.880C>T MANE Select ENSP00000363727.3:p.Arg294Trp
ENST00000252336.10:c.640C>T ENSP00000252336.6:p.Arg214Trp
ENST00000374597.3:c.640C>T ENSP00000363725.3:p.Arg214Trp
ENST00000374599.7:c.880C>T ENSP00000363727.3:p.Arg294Trp
ENST00000523864.5:c.*639C>T ENSP00000428031.1:n.*639C>T
NM_001142503.2:c.880C>T NP_001135975.1:p.Arg294Trp
NM_001142504.2:c.640C>T NP_001135976.1:p.Arg214Trp
NM_014725.4:c.640C>T NP_055540.2:p.Arg214Trp
XM_005262314.3:c.892C>T XP_005262371.1:p.Arg298Trp
XM_005262315.2:c.652C>T XP_005262372.1:p.Arg218Trp
XM_011531069.1:c.640C>T XP_011529371.1:p.Arg214Trp
XM_011531070.1:c.652C>T XP_011529372.1:p.Arg218Trp
XM_005262314.4:c.892C>T XP_005262371.1:p.Arg298Trp
XM_005262315.3:c.652C>T XP_005262372.1:p.Arg218Trp
XM_011531069.3:c.640C>T XP_011529371.1:p.Arg214Trp
XM_011531070.2:c.652C>T XP_011529372.1:p.Arg218Trp
NM_001142504.3:c.640C>T NP_001135976.1:p.Arg214Trp
NM_001142503.3:c.880C>T MANE Select NP_001135975.1:p.Arg294Trp
NM_014725.5:c.640C>T NP_055540.2:p.Arg214Trp