Canonical Allele Identifier: CA1085015248

Gene: RUFY1

Linked Data

• dbSNP Id: rs1766977060
• gnomAD v3: 5-179605520-G-A
• gnomAD v4: 5-179605520-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179605520G>A , CM000667.2:g.179605520G>A	GRCh38
NC_000005.9:g.179032521G>A , CM000667.1:g.179032521G>A	GRCh37
NC_000005.8:g.178965127G>A	NCBI36
NG_031967.1:g.59960G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000319449.9:c.1857-356G>A MANE Select	ENSP00000325594.4:n.1857-356G>A
ENST00000319449.8:c.1857-356G>A	ENSP00000325594.4:n.1857-356G>A
ENST00000393438.6:c.1533-356G>A	ENSP00000377087.2:n.1533-356G>A
ENST00000437570.6:c.1533-356G>A	ENSP00000390025.2:n.1533-356G>A
ENST00000502434.1:c.889-356G>A
ENST00000502531.1:n.348-356G>A
NM_001040451.2:c.1533-356G>A	NP_001035541.1:n.1533-356G>A
NM_001040452.2:c.1533-356G>A	NP_001035542.1:n.1533-356G>A
NM_025158.4:c.1857-356G>A	NP_079434.3:n.1857-356G>A
XM_005265993.3:c.1128-356G>A	XP_005266050.1:n.1128-356G>A
XM_006714921.2:c.1791-356G>A	XP_006714984.2:n.1791-356G>A
XM_006714922.2:c.837-356G>A	XP_006714985.1:n.837-356G>A
XR_245276.2:n.1858-356G>A
XR_245277.2:n.1858-356G>A
XM_005265993.4:c.1128-356G>A	XP_005266050.1:n.1128-356G>A
XM_006714921.3:c.1791-356G>A	XP_006714984.2:n.1791-356G>A
XM_006714922.3:c.837-356G>A	XP_006714985.1:n.837-356G>A
XM_017009891.1:c.1467-356G>A	XP_016865380.1:n.1467-356G>A
XM_017009893.2:c.981-356G>A	XP_016865382.1:n.981-356G>A
XM_017009894.1:c.837-356G>A	XP_016865383.1:n.837-356G>A
XM_017009895.2:c.663-356G>A	XP_016865384.1:n.663-356G>A
XM_024446220.1:c.1047-356G>A	XP_024301988.1:n.1047-356G>A
XR_001742278.1:n.2021-356G>A
XR_001742279.1:n.1955-356G>A
XR_245276.3:n.1876-356G>A
XR_245277.3:n.1876-356G>A
NM_025158.5:c.1857-356G>A MANE Select	NP_079434.3:n.1857-356G>A
NM_001040451.3:c.1533-356G>A	NP_001035541.1:n.1533-356G>A
NM_001040452.3:c.1533-356G>A	NP_001035542.1:n.1533-356G>A