Canonical Allele Identifier: CA7768161

Gene: RHBDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.60484G>A , CM000678.2:g.60484G>A	GRCh38
NC_000016.9:g.110482G>A , CM000678.1:g.110482G>A	GRCh37
NC_000016.8:g.50482G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022450.5:c.1613C>T MANE Select	NP_071895.3:p.Ala538Val
ENST00000262316.10:c.1613C>T MANE Select	ENSP00000262316.5:p.Ala538Val
NM_022450.3:c.1613C>T	NP_071895.3:p.Ala538Val
NM_022450.4:c.1613C>T	NP_071895.3:p.Ala538Val
ENST00000428730.5:c.*927C>T	ENSP00000411508.1:n.*927C>T
ENST00000493647.1:n.197C>T
XM_005255494.1:c.1613C>T	XP_005255551.1:p.Ala538Val
XM_005255498.2:c.665C>T	XP_005255555.1:p.Ala222Val
XM_006720921.1:c.1682C>T	XP_006720984.1:p.Ala561Val
XM_011522598.1:c.1613C>T	XP_011520900.1:p.Ala538Val
XM_011522599.1:c.1451C>T	XP_011520901.1:p.Ala484Val
XM_011522600.1:c.1613C>T	XP_011520902.1:p.Ala538Val
XM_017023556.1:c.1682C>T	XP_016879045.1:p.Ala561Val
XM_017023557.1:c.1520C>T	XP_016879046.1:p.Ala507Val
XM_017023558.1:c.1682C>T	XP_016879047.1:p.Ala561Val