Canonical Allele Identifier: CA386595136
Community Standard Title: NM_014868.5(RNF10):c.1924T>C (p.Phe642Leu)
Gene: RNF10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120566863T>C , CM000674.2:g.120566863T>C GRCh38
NC_000012.11:g.121004666T>C , CM000674.1:g.121004666T>C GRCh37
NC_000012.10:g.119489049T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014868.5:c.1924T>C MANE Select NP_055683.3:p.Phe642Leu
ENST00000325954.9:c.1924T>C MANE Select ENSP00000322242.4:p.Phe642Leu
NM_001330474.1:c.1939T>C NP_001317403.1:p.Phe647Leu
NM_001330474.2:c.1939T>C NP_001317403.1:p.Phe647Leu
NM_014868.4:c.1924T>C NP_055683.3:p.Phe642Leu
ENST00000325954.8:c.1924T>C ENSP00000322242.4:p.Phe642Leu
ENST00000366112.6:n.235T>C
ENST00000413266.6:c.1939T>C ENSP00000415682.2:p.Phe647Leu
ENST00000535470.5:n.133T>C
ENST00000538254.1:c.46+1334T>C ENSP00000441487.1:n.46+1334T>C
ENST00000540046.5:c.556T>C ENSP00000439859.1:p.Phe186Leu
ENST00000545419.5:c.532T>C ENSP00000445160.1:p.Phe178Leu
ENST00000546262.5:c.268T>C ENSP00000439221.1:p.Phe90Leu
ENST00000546262.6:c.745T>C
XM_005254013.1:c.1789T>C XP_005254070.1:p.Phe597Leu
XM_005254013.2:c.1789T>C XP_005254070.1:p.Phe597Leu
XM_005254014.2:c.1900+1334T>C XP_005254071.1:n.1900+1334T>C
XM_006719717.1:c.1939T>C XP_006719780.1:p.Phe647Leu
XM_011539039.1:c.1405T>C XP_011537341.1:p.Phe469Leu
XM_017020282.1:c.1774T>C XP_016875771.1:p.Phe592Leu
XM_017020283.2:c.1939T>C XP_016875772.1:p.Phe647Leu
XR_001748933.2:n.2383T>C
XR_001748934.2:n.2398T>C
XR_001748935.2:n.2383T>C
XR_001748936.2:n.2383T>C
XR_001748937.2:n.2398T>C
XR_001748938.2:n.2383T>C
XR_001748939.1:n.2484T>C
XR_243026.2:n.2443T>C
XR_243026.4:n.2398T>C
XR_429123.1:n.2443T>C
XR_944849.1:n.2443T>C
XR_944849.3:n.2398T>C
XR_944850.1:n.2443T>C