Canonical Allele Identifier: CA5494352
Community Standard Title: NM_001135196.2(C10orf71):c.1016C>A (p.Ala339Glu)
Gene: C10orf71 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49323561C>A , CM000672.2:g.49323561C>A GRCh38
NC_000010.10:g.50531606C>A , CM000672.1:g.50531606C>A GRCh37
NC_000010.9:g.50201612C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001135196.2:c.1016C>A MANE Select NP_001128668.1:p.Ala339Glu
ENST00000374144.8:c.1016C>A MANE Select ENSP00000363259.3:p.Ala339Glu
NM_001135196.1:c.1016C>A NP_001128668.1:p.Ala339Glu
ENST00000374144.7:c.1016C>A ENSP00000363259.3:p.Ala339Glu
XM_005269476.3:c.1016C>A XP_005269533.1:p.Ala339Glu
XM_005269476.4:c.1016C>A XP_005269533.1:p.Ala339Glu
XM_005269477.2:c.1016C>A XP_005269534.1:p.Ala339Glu
XM_005269477.3:c.1016C>A XP_005269534.1:p.Ala339Glu
XM_005269478.3:c.1016C>A XP_005269535.1:p.Ala339Glu
XM_005269478.4:c.1016C>A XP_005269535.1:p.Ala339Glu
XM_011539208.1:c.578C>A XP_011537510.1:p.Ala193Glu
XM_017015619.1:c.578C>A XP_016871108.1:p.Ala193Glu