Canonical Allele Identifier: CA387622974

Gene: RNF6

Linked Data

• dbSNP Id: rs1180053939
• gnomAD v2: 13-26789292-C-T
• gnomAD v3: 13-26215155-C-T
• gnomAD v4: 13-26215155-C-T
• MyVariant Identifiers: chr13:g.26789292C>T (hg19) ; chr13:g.26215155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.26215155C>T , CM000675.2:g.26215155C>T	GRCh38
NC_000013.10:g.26789292C>T , CM000675.1:g.26789292C>T	GRCh37
NC_000013.9:g.25687292C>T	NCBI36
NG_017042.1:g.12217G>A
NG_017042.2:g.12217G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381588.9:c.727G>A MANE Select	ENSP00000371000.4:p.Ala243Thr
ENST00000346166.7:c.727G>A	ENSP00000342121.3:p.Ala243Thr
ENST00000381570.7:c.727G>A	ENSP00000370982.3:p.Ala243Thr
ENST00000381588.8:c.727G>A	ENSP00000371000.4:p.Ala243Thr
ENST00000468480.5:n.768+319G>A
ENST00000498039.5:n.839G>A
NM_005977.3:c.727G>A	NP_005968.1:p.Ala243Thr
NM_183043.2:c.727G>A	NP_898864.1:p.Ala243Thr
NM_183044.2:c.727G>A	NP_898865.1:p.Ala243Thr
NM_183045.1:c.408+319G>A	NP_898866.1:n.408+319G>A
XM_005266485.1:c.727G>A	XP_005266542.1:p.Ala243Thr
XM_005266486.1:c.727G>A	XP_005266543.1:p.Ala243Thr
XM_011535177.1:c.727G>A	XP_011533479.1:p.Ala243Thr
XM_011535178.1:c.408+319G>A	XP_011533480.1:n.408+319G>A
XM_005266485.3:c.727G>A	XP_005266542.1:p.Ala243Thr
XM_005266486.2:c.727G>A	XP_005266543.1:p.Ala243Thr
XM_011535177.3:c.727G>A	XP_011533479.1:p.Ala243Thr
XM_011535178.2:c.408+319G>A	XP_011533480.1:n.408+319G>A
XM_017020685.2:c.408+319G>A	XP_016876174.1:n.408+319G>A
XM_017020686.1:c.408+319G>A	XP_016876175.1:n.408+319G>A
XM_017020687.1:c.408+319G>A	XP_016876176.1:n.408+319G>A
XM_024449390.1:c.727G>A	XP_024305158.1:p.Ala243Thr
XM_024449391.1:c.408+319G>A	XP_024305159.1:n.408+319G>A
XM_024449392.1:c.408+319G>A	XP_024305160.1:n.408+319G>A
NM_005977.4:c.727G>A MANE Select	NP_005968.1:p.Ala243Thr
NM_183043.3:c.727G>A	NP_898864.1:p.Ala243Thr
NM_183044.3:c.727G>A	NP_898865.1:p.Ala243Thr