Canonical Allele Identifier: CA7768735

Gene: RHBDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.64747C>T , CM000678.2:g.64747C>T	GRCh38
NC_000016.9:g.114745C>T , CM000678.1:g.114745C>T	GRCh37
NC_000016.8:g.54745C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022450.5:c.200G>A MANE Select	NP_071895.3:p.Arg67Gln
ENST00000262316.10:c.200G>A MANE Select	ENSP00000262316.5:p.Arg67Gln
NM_022450.3:c.200G>A	NP_071895.3:p.Arg67Gln
NM_022450.4:c.200G>A	NP_071895.3:p.Arg67Gln
ENST00000417043.5:c.200G>A	ENSP00000412218.1:p.Arg67Gln
ENST00000419764.1:c.200G>A	ENSP00000394427.1:p.Arg67Gln
ENST00000428730.5:c.200G>A	ENSP00000411508.1:p.Arg67Gln
ENST00000450643.5:c.200G>A	ENSP00000408915.1:p.Arg67Gln
ENST00000472390.1:n.382G>A
ENST00000487201.1:n.402G>A
XM_005255494.1:c.200G>A	XP_005255551.1:p.Arg67Gln
XM_005255498.2:c.-745G>A	XP_005255555.1:n.-745G>A
XM_006720921.1:c.269G>A	XP_006720984.1:p.Arg90Gln
XM_011522598.1:c.200G>A	XP_011520900.1:p.Arg67Gln
XM_011522599.1:c.200G>A	XP_011520901.1:p.Arg67Gln
XM_011522600.1:c.200G>A	XP_011520902.1:p.Arg67Gln
XM_017023556.1:c.269G>A	XP_016879045.1:p.Arg90Gln
XM_017023557.1:c.269G>A	XP_016879046.1:p.Arg90Gln
XM_017023558.1:c.269G>A	XP_016879047.1:p.Arg90Gln