Canonical Allele Identifier: CA1604216662
Gene: RUFY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179605506A= , CM000667.2:g.179605506A= GRCh38
NC_000005.9:g.179032507A= , CM000667.1:g.179032507A= GRCh37
NC_000005.8:g.178965113A= NCBI36
NG_031967.1:g.59946A=

Transcript Alleles

HGVS Amino-acid change
ENST00000319449.9:c.1857-370A= MANE Select ENSP00000325594.4:n.1857-370A=
ENST00000319449.8:c.1857-370A= ENSP00000325594.4:n.1857-370A=
ENST00000393438.6:c.1533-370A= ENSP00000377087.2:n.1533-370A=
ENST00000437570.6:c.1533-370A= ENSP00000390025.2:n.1533-370A=
ENST00000502434.1:c.889-370A=
ENST00000502531.1:n.348-370A=
NM_001040451.2:c.1533-370A= NP_001035541.1:n.1533-370A=
NM_001040452.2:c.1533-370A= NP_001035542.1:n.1533-370A=
NM_025158.4:c.1857-370A= NP_079434.3:n.1857-370A=
XM_005265993.3:c.1128-370A= XP_005266050.1:n.1128-370A=
XM_006714921.2:c.1791-370A= XP_006714984.2:n.1791-370A=
XM_006714922.2:c.837-370A= XP_006714985.1:n.837-370A=
XR_245276.2:n.1858-370A=
XR_245277.2:n.1858-370A=
XM_005265993.4:c.1128-370A= XP_005266050.1:n.1128-370A=
XM_006714921.3:c.1791-370A= XP_006714984.2:n.1791-370A=
XM_006714922.3:c.837-370A= XP_006714985.1:n.837-370A=
XM_017009891.1:c.1467-370A= XP_016865380.1:n.1467-370A=
XM_017009893.2:c.981-370A= XP_016865382.1:n.981-370A=
XM_017009894.1:c.837-370A= XP_016865383.1:n.837-370A=
XM_017009895.2:c.663-370A= XP_016865384.1:n.663-370A=
XM_024446220.1:c.1047-370A= XP_024301988.1:n.1047-370A=
XR_001742278.1:n.2021-370A=
XR_001742279.1:n.1955-370A=
XR_245276.3:n.1876-370A=
XR_245277.3:n.1876-370A=
NM_025158.5:c.1857-370A= MANE Select NP_079434.3:n.1857-370A=
NM_001040451.3:c.1533-370A= NP_001035541.1:n.1533-370A=
NM_001040452.3:c.1533-370A= NP_001035542.1:n.1533-370A=