Canonical Allele Identifier: CA12018369

Gene: RUFY1

Linked Data

• dbSNP Id: rs6894268
• gnomAD v2: 5-179032488-A-G
• gnomAD v3: 5-179605487-A-G
• gnomAD v4: 5-179605487-A-G
• MyVariant Identifiers: chr5:g.179032488A>G (hg19) ; chr5:g.179605487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179605487A>G , CM000667.2:g.179605487A>G	GRCh38
NC_000005.9:g.179032488A>G , CM000667.1:g.179032488A>G	GRCh37
NC_000005.8:g.178965094A>G	NCBI36
NG_031967.1:g.59927A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000319449.9:c.1857-389A>G MANE Select	ENSP00000325594.4:n.1857-389A>G
ENST00000319449.8:c.1857-389A>G	ENSP00000325594.4:n.1857-389A>G
ENST00000393438.6:c.1533-389A>G	ENSP00000377087.2:n.1533-389A>G
ENST00000437570.6:c.1533-389A>G	ENSP00000390025.2:n.1533-389A>G
ENST00000502434.1:c.889-389A>G
ENST00000502531.1:n.348-389A>G
NM_001040451.2:c.1533-389A>G	NP_001035541.1:n.1533-389A>G
NM_001040452.2:c.1533-389A>G	NP_001035542.1:n.1533-389A>G
NM_025158.4:c.1857-389A>G	NP_079434.3:n.1857-389A>G
XM_005265993.3:c.1128-389A>G	XP_005266050.1:n.1128-389A>G
XM_006714921.2:c.1791-389A>G	XP_006714984.2:n.1791-389A>G
XM_006714922.2:c.837-389A>G	XP_006714985.1:n.837-389A>G
XR_245276.2:n.1858-389A>G
XR_245277.2:n.1858-389A>G
XM_005265993.4:c.1128-389A>G	XP_005266050.1:n.1128-389A>G
XM_006714921.3:c.1791-389A>G	XP_006714984.2:n.1791-389A>G
XM_006714922.3:c.837-389A>G	XP_006714985.1:n.837-389A>G
XM_017009891.1:c.1467-389A>G	XP_016865380.1:n.1467-389A>G
XM_017009893.2:c.981-389A>G	XP_016865382.1:n.981-389A>G
XM_017009894.1:c.837-389A>G	XP_016865383.1:n.837-389A>G
XM_017009895.2:c.663-389A>G	XP_016865384.1:n.663-389A>G
XM_024446220.1:c.1047-389A>G	XP_024301988.1:n.1047-389A>G
XR_001742278.1:n.2021-389A>G
XR_001742279.1:n.1955-389A>G
XR_245276.3:n.1876-389A>G
XR_245277.3:n.1876-389A>G
NM_025158.5:c.1857-389A>G MANE Select	NP_079434.3:n.1857-389A>G
NM_001040451.3:c.1533-389A>G	NP_001035541.1:n.1533-389A>G
NM_001040452.3:c.1533-389A>G	NP_001035542.1:n.1533-389A>G