Canonical Allele Identifier: CA387621383
Gene: RNF6 HGNC NCBI

Linked Data

dbSNP Id: rs1193702202

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.26214934C>G , CM000675.2:g.26214934C>G GRCh38
NC_000013.10:g.26789071C>G , CM000675.1:g.26789071C>G GRCh37
NC_000013.9:g.25687071C>G NCBI36
NG_017042.1:g.12438G>C
NG_017042.2:g.12438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381588.9:c.948G>C MANE Select ENSP00000371000.4:p.Gln316His
ENST00000346166.7:c.948G>C ENSP00000342121.3:p.Gln316His
ENST00000381570.7:c.948G>C ENSP00000370982.3:p.Gln316His
ENST00000381588.8:c.948G>C ENSP00000371000.4:p.Gln316His
ENST00000468480.5:n.768+540G>C
NM_005977.3:c.948G>C NP_005968.1:p.Gln316His
NM_183043.2:c.948G>C NP_898864.1:p.Gln316His
NM_183044.2:c.948G>C NP_898865.1:p.Gln316His
NM_183045.1:c.408+540G>C NP_898866.1:n.408+540G>C
XM_005266485.1:c.948G>C XP_005266542.1:p.Gln316His
XM_005266486.1:c.948G>C XP_005266543.1:p.Gln316His
XM_011535177.1:c.948G>C XP_011533479.1:p.Gln316His
XM_011535178.1:c.408+540G>C XP_011533480.1:n.408+540G>C
XM_005266485.3:c.948G>C XP_005266542.1:p.Gln316His
XM_005266486.2:c.948G>C XP_005266543.1:p.Gln316His
XM_011535177.3:c.948G>C XP_011533479.1:p.Gln316His
XM_011535178.2:c.408+540G>C XP_011533480.1:n.408+540G>C
XM_017020685.2:c.409-165G>C XP_016876174.1:n.409-165G>C
XM_017020686.1:c.409-165G>C XP_016876175.1:n.409-165G>C
XM_017020687.1:c.409-165G>C XP_016876176.1:n.409-165G>C
XM_024449390.1:c.948G>C XP_024305158.1:p.Gln316His
XM_024449391.1:c.409-165G>C XP_024305159.1:n.409-165G>C
XM_024449392.1:c.409-165G>C XP_024305160.1:n.409-165G>C
NM_005977.4:c.948G>C MANE Select NP_005968.1:p.Gln316His
NM_183043.3:c.948G>C NP_898864.1:p.Gln316His
NM_183044.3:c.948G>C NP_898865.1:p.Gln316His