Canonical Allele Identifier: CA404894593

Gene: RFXANK

Linked Data

• dbSNP Id: rs1599782292
• MyVariant Identifiers: chr19:g.19308368A>C (hg19) ; chr19:g.19197559A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197559A>C , CM000681.2:g.19197559A>C	GRCh38
NC_000019.9:g.19308368A>C , CM000681.1:g.19308368A>C	GRCh37
NC_000019.8:g.19169368A>C	NCBI36
NG_007432.1:g.10361A>C , LRG_102:g.10361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303088.9:c.376A>C MANE Select	ENSP00000305071.2:p.Thr126Pro
ENST00000303088.8:c.376A>C	ENSP00000305071.2:p.Thr126Pro
ENST00000392324.8:c.307A>C	ENSP00000376138.3:p.Thr103Pro
ENST00000407360.7:c.376A>C	ENSP00000384572.3:p.Thr126Pro
ENST00000456252.7:c.310A>C	ENSP00000409138.2:p.Thr104Pro
ENST00000535017.1:c.205A>C	ENSP00000444280.1:p.Thr69Pro
ENST00000540981.5:c.310A>C	ENSP00000440325.2:p.Thr104Pro
ENST00000541873.6:n.569A>C
ENST00000543118.1:n.305A>C
ENST00000545522.2:n.784A>C
ENST00000593273.5:c.373A>C	ENSP00000466913.1:p.Thr125Pro
NM_001278727.1:c.310A>C	NP_001265656.1:p.Thr104Pro
NM_001278728.1:c.307A>C	NP_001265657.1:p.Thr103Pro
NM_003721.3:c.376A>C	NP_003712.1:p.Thr126Pro
NM_134440.2:c.307A>C	NP_604389.1:p.Thr103Pro
XM_005260134.3:c.376A>C	XP_005260191.1:p.Thr126Pro
XM_005260135.2:c.376A>C	XP_005260192.1:p.Thr126Pro
XM_005260136.3:c.373A>C	XP_005260193.1:p.Thr125Pro
XM_005260137.3:c.373A>C	XP_005260194.1:p.Thr125Pro
XM_006722930.2:c.373A>C	XP_006722993.1:p.Thr125Pro
XM_005260134.5:c.376A>C	XP_005260191.1:p.Thr126Pro
XM_005260135.3:c.376A>C	XP_005260192.1:p.Thr126Pro
XM_005260136.5:c.373A>C	XP_005260193.1:p.Thr125Pro
XM_005260137.4:c.373A>C	XP_005260194.1:p.Thr125Pro
XM_006722930.4:c.373A>C	XP_006722993.1:p.Thr125Pro
XM_017027415.1:c.376A>C	XP_016882904.1:p.Thr126Pro
XM_017027416.1:c.310A>C	XP_016882905.1:p.Thr104Pro
NM_003721.4:c.376A>C MANE Select	NP_003712.1:p.Thr126Pro
NM_001370233.1:c.376A>C	NP_001357162.1:p.Thr126Pro
NM_001370234.1:c.310A>C	NP_001357163.1:p.Thr104Pro
NM_001370235.1:c.373A>C	NP_001357164.1:p.Thr125Pro
NM_001370236.1:c.373A>C	NP_001357165.1:p.Thr125Pro
NM_001370237.1:c.373A>C	NP_001357166.1:p.Thr125Pro
NM_001370238.1:c.376A>C	NP_001357167.1:p.Thr126Pro
NM_001278727.2:c.310A>C	NP_001265656.1:p.Thr104Pro
NM_001278728.2:c.307A>C	NP_001265657.1:p.Thr103Pro
NM_134440.3:c.307A>C	NP_604389.1:p.Thr103Pro