Canonical Allele Identifier: CA10437416
Community Standard Title: NM_001142503.3(STARD8):c.196G>A (p.Gly66Ser)
Gene: STARD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68715338G>A , CM000685.2:g.68715338G>A GRCh38
NC_000023.10:g.67935180G>A , CM000685.1:g.67935180G>A GRCh37
NC_000023.9:g.67851905G>A NCBI36
NG_016856.1:g.72670G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001142503.3:c.196G>A MANE Select NP_001135975.1:p.Gly66Ser
ENST00000374599.8:c.196G>A MANE Select ENSP00000363727.3:p.Gly66Ser
NM_001142503.2:c.196G>A NP_001135975.1:p.Gly66Ser
NM_001142504.2:c.-45G>A NP_001135976.1:n.-45G>A
NM_001142504.3:c.-45G>A NP_001135976.1:n.-45G>A
NM_014725.4:c.-7-1030G>A NP_055540.2:n.-7-1030G>A
NM_014725.5:c.-7-1030G>A NP_055540.2:n.-7-1030G>A
ENST00000252336.10:c.-7-1030G>A ENSP00000252336.6:n.-7-1030G>A
ENST00000374597.3:c.-45G>A ENSP00000363725.3:n.-45G>A
ENST00000374599.7:c.196G>A ENSP00000363727.3:p.Gly66Ser
ENST00000523864.5:c.152-1030G>A ENSP00000428031.1:n.152-1030G>A
XM_005262314.3:c.196G>A XP_005262371.1:p.Gly66Ser
XM_005262314.4:c.196G>A XP_005262371.1:p.Gly66Ser
XM_005262315.2:c.-45G>A XP_005262372.1:n.-45G>A
XM_005262315.3:c.-45G>A XP_005262372.1:n.-45G>A
XM_011531069.1:c.-45G>A XP_011529371.1:n.-45G>A
XM_011531069.3:c.-45G>A XP_011529371.1:n.-45G>A
XM_011531070.1:c.-45G>A XP_011529372.1:n.-45G>A
XM_011531070.2:c.-45G>A XP_011529372.1:n.-45G>A